Cystic fibrosis (also known as CF, mucoviscoidosis, or mucoviscidosis) is a hereditary disease that affects mainly the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // E00-E35 - Endocrine diseases (E00-E07) Disorders of thyroid gland (E00) Congenital iodine-deficiency syndrome (E01) Iodine-deficiency-related thyroid disorders and allied conditions (E02) Subclinical iodine-deficiency hypothyroidism (E03) Other hypothyroidism (E030) Congenital hypothyroidism with diffuse goitre (E031) Congenital hypothyroidism without goitre (E032) Hypothyroidism due to medicaments and other... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... A genetic disorder is a condition caused by abnormalities in genes or chromosomes. ...

Thick mucus production, as well as a less competent immune system, results in frequent lung infections. Diminished secretion of pancreatic enzymes is the main cause of poor growth, fatty diarrhea and deficiency in fat-soluble vitamins. Males can be infertile due to the condition congenital bilateral absence of the vas deferens. Often, symptoms of CF appear in infancy and childhood. Meconium ileus is a typical finding in newborn babies with CF. A scanning electron microscope image of a single neutrophil (yellow), engulfing anthrax bacteria (orange). ... This article is about human pneumonia. ... Failure to thrive is a medical term which denotes poor weight gain and physical growth failure over an extended period of time in infancy. ... Steatorrhoea is the formation of bulky, grey or pale faeces. ... Infertility primarily refers to the biological inability of a man or a woman to contribute to conception. ... This article belongs in one or more categories. ... Meconium from 12-hour-old newborn — the babys third bowel movement. ...

Individuals with cystic fibrosis can be diagnosed prior to birth by genetic testing. Newborn screening tests are increasingly common and effective. The diagnosis of CF may be confirmed if high levels of salt are found during a sweat test, although some false positives may occur. Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ... The Guthrie test is a series of medical tests performed on newborns to detect several metabolic diseases. ... A sweat test is performed to determine the amount of chloride and sodium that is excreted in sweat from the body during during a certain period of time. ...

There is no cure for CF, and most individuals with cystic fibrosis die young: many in their 20s and 30s from lung failure. However, with the continuous introduction of many new treatments, the life expectancy of a person with CF is increasing to ages as high as 40 or 50. Lung transplantation is often necessary as CF worsens.

Cystic fibrosis is one of the most common life-shortening, childhood-onset inherited diseases. In the United States, 1 in 3900 children are born with CF^[1]. It is most common among Europeans and Ashkenazi Jews; one in twenty-two people of European descent are carriers of one gene for CF, making it the most common genetic disease in these populations. Ireland has the highest rate of CF carriers in the world (1 in 19). The European peoples are the various nations and ethnic groups of Europe. ... Language(s) Yiddish, Hebrew, Russian, English Religion(s) Judaism Related ethnic groups Sephardi Jews, Mizrahi Jews, and other Jewish ethnic divisions Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim (Standard Hebrew: sing. ...

CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The product of this gene is a chloride ion channel important in creating sweat, digestive juices, and mucus. Although most people without CF have two working copies (alleles) of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither allele can produce a functional CFTR protein. Therefore, CF is considered an autosomal recessive disease. For linguistic mutation, see Apophony. ... For other uses, see Gene (disambiguation). ... The location of the CFTR gene on chromosome 7 CFTR (cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)) is a human gene that provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. ... Orthologs Human Mouse Entrez Ensembl Uniprot Refseq Location CFTR are also the call letters for radio station CFTR (AM) in Toronto, Ontario. ... For the industrial process, see anaerobic digestion. ... Mucus cells. ... An autosome is a non-sex chromosome. ... It has been suggested that this article or section be merged into Dominance relationship. ...

Symptomatic diseases

Lung and sinus disease

Lung disease results from clogging of airways due to mucus buildup and resulting inflammation. Inflammation and infection cause injury to the lungs and structural changes that lead to a variety of symptoms. In the early stages, incessant coughing, copious phlegm production, and decreased ability to exercise are common. Many of these symptoms occur when bacteria that normally inhabit the thick mucus grow out of control and cause pneumonia. In later stages of CF, changes in the architecture of the lung further exacerbate chronic difficulties in breathing. An abscess on the skin, showing the redness and swelling characteristic of inflammation. ... Phlegm (pronounced ) is sticky fluid secreted by the typhoid membranes of animals. ... Phyla Actinobacteria Aquificae Chlamydiae Bacteroidetes/Chlorobi Chloroflexi Chrysiogenetes Cyanobacteria Deferribacteres Deinococcus-Thermus Dictyoglomi Fibrobacteres/Acidobacteria Firmicutes Fusobacteria Gemmatimonadetes Lentisphaerae Nitrospirae Planctomycetes Proteobacteria Spirochaetes Thermodesulfobacteria Thermomicrobia Thermotogae Verrucomicrobia Bacteria (singular: bacterium) are unicellular microorganisms. ...

Aspergillus fumigatus - A common fungus which can lead to worsening lung disease in people with CF

Other symptoms include coughing up blood (hemoptysis), changes in the major airways in the lungs (bronchiectasis), high blood pressure in the lung (pulmonary hypertension), heart failure, difficulties getting enough oxygen to the body (hypoxia), and respiratory failure requiring support with breathing masks such as bilevel positive airway pressure machines or ventilators.^[2] In addition to typical bacterial infections, people with CF more commonly develop other types of lung disease. Among these is allergic bronchopulmonary aspergillosis, in which the body's response to the common fungus Aspergillus fumigatus causes worsening of breathing problems. Another is infection with mycobacterium avium complex (MAC), a group of bacteria related to tuberculosis, which can cause further lung damage and does not respond to common antibiotics. Image File history File links Download high resolution version (2100x1430, 1705 KB)The conidiophore of the fungal organism Aspergillus fumigatus. ... Image File history File links Download high resolution version (2100x1430, 1705 KB)The conidiophore of the fungal organism Aspergillus fumigatus. ... Hemoptysis (US English) or haemoptysis (International English) is the expectoration (coughing up) of blood or of blood-stained sputum from the bronchi, larynx, trachea, or lungs (e. ... A sphygmomanometer, a device used for measuring arterial pressure. ... In medicine, pulmonary hypertension (PH) is an increase in blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, together known as the lung vasculature, leading to shortness of breath, dizziness, fainting, and other symptoms, all of which are exacerbated by exertion. ... This article is about the chemical element and its most stable form, or dioxygen. ... Hypoxia may refer to: Hypoxia (medical), the lack of oxygen in tissues Hypoxia or Oxygen depletion, a reduced concentration of dissolved oxygen in a water body leading to stress or even death in aquatic organisms This is a disambiguation page: a list of articles associated with the same title. ... Bilevel Positive Airway Pressure (or BiPAP) is a method of respiratory ventilation used primarily in the treatment of sleep apnea and various lung diseases. ... mechanical or forced ventilation is the use of powered equipment, e. ... Allergic bronchopulmonary aspergillosis (ABPA) is a hypersensitivity response to the fungus Aspergillus fumigatus, the spores of which are ubiquitous in soil and are commonly found in the sputum of healthy individuals. ... For the fictional character, see Fungus the Bogeyman. ... Aspergillus fumigatus is a fungus of the genus Aspergillus, and it is one of the most common Aspergillus species to cause disease in humans with a weakened immune response. ... Mycobacterium avium complex refers to infection by two species of bacteria, Mycobacterium avium and Mycobacterium intracellulare. ... Tuberculosis (abbreviated as TB for tubercle bacillus or Tuberculosis) is a common and deadly infectious disease caused by mycobacteria, mainly Mycobacterium tuberculosis. ...

Mucus in the paranasal sinuses is equally thick and may also cause blockage of the sinus passages, leading to infection. This may cause facial pain, fever, nasal drainage, and headaches. Individuals with CF may develop overgrowth of the nasal tissue (nasal polyps) due to inflammation from chronic sinus infections. These polyps can block the nasal passages and increase breathing difficulties.^[3][4] This article does not cite any references or sources. ... A headache (cephalgia in medical terminology) is a condition of pain in the head; sometimes neck or upper back pain may also be interpreted as a headache. ...

Gastrointestinal, liver and pancreatic disease

Prior to prenatal and newborn screening, cystic fibrosis was often diagnosed when a newborn infant failed to pass faeces (meconium). Meconium may completely block the intestines and cause serious illness. This condition, called meconium ileus, occurs in 10% of newborns with CF.^[5] In addition, protrusion of internal rectal membranes (rectal prolapse) is more common in CF because of increased fecal volume, malnutrition, and increased intra–abdominal pressure due to coughing.^[6] Newborn screening is the process of testing newborn babies for treatable genetic, endocrinologic, metabolic and hematologic diseases. ... Meconium from 12-hour-old newborn — the babys third bowel movement. ... In biology the small intestine is the part of the gastrointestinal tract (gut) between the stomach and the large intestine and includes the duodenum, jejunum, and ileum. ... Meconium from 12-hour-old newborn — the babys third bowel movement. ... The rectum (from the Latin rectum intestinum, meaning straight intestine) is the final straight portion of the large intestine in some mammals, and the gut in others, terminating in the anus. ... Rectal prolapse normally describes a medical condition wherein the walls of the rectum protrude through the anus and hence become visible outside the body. ... In medicine, the Valsalva maneuver is performed by forcibly exhaling against closed lips and pinched nose, forcing air into the middle ear if the Eustachian tube is open. ...

The thick mucus seen in the lungs has its counterpart in thickened secretions from the pancreas, an organ responsible for providing digestive juices which help break down food. These secretions block the movement of the digestive enzymes into the duodenum and result in irreversible damage to the pancreas, often with painful inflammation (pancreatitis).^[7] The lack of digestive enzymes leads to difficulty absorbing nutrients with their subsequent excretion in the faeces, a disorder known as malabsorption. Malabsorption leads to malnutrition and poor growth and development because of calorie loss. Individuals with CF also have difficulties absorbing the fat-soluble vitamins A, D, E, and K. In addition to the pancreas problems, people with cystic fibrosis experience more heartburn, intestinal blockage by intussusception, and constipation.^[8] Older individuals with CF may also develop distal intestinal obstruction syndrome when thickened faeces cause intestinal blockage.^[9] Pancreatic juice is a juice produced by the pancreas. ... In anatomy of the digestive system, the duodenum is a hollow jointed tube about 25-30 cm long connecting the stomach to the jejunum. ... Pancreatitis is inflammation of the pancreas. ... Malabsorption is the state of impaired absorption of nutrients in the small intestine. ... Percentage of population affected by malnutrition by country, according to United Nations statistics. ... The structure of retinol, the most common dietary form of vitamin A Vitamin A is an essential human nutrient. ... Vitamin D is a fat soluble vitamin that contributes to the maintenance of normal levels of calcium and phosphorus in the bloodstream. ... Tocopherol, or Vitamin E, is a fat-soluble vitamin in eight forms that is an important antioxidant. ... Vitamin K1 (phylloquinone). ... An intussusception is a situation in which a part of the intestine has prolapsed into another section of intestine, similar to the way in which the parts of a collapsible telescope slide into one another. ... Constipation or irregularity, is a condition of the digestive system where a person (or animal) experiences hard feces that are difficult to egest; it may be extremely painful, and in severe cases (fecal impaction) lead to symptoms of bowel obstruction. ... Distal intestinal obstruction syndrome (DIOS) involves blockage of the intestines by thickened stool and occurs in individuals with cystic fibrosis. ...

Thickened secretions also may cause liver problems in patients with CF. Bile secreted by the liver to aid in digestion may block the bile ducts, leading to liver damage. Over time, this can lead to cirrhosis, in which the liver fails to rid the blood of toxins and does not make important proteins such as those responsible for blood clotting.^[10][11] Bile (or gall) is a bitter, yellow or green alkaline fluid secreted by hepatocytes from the liver of most vertebrates. ... A bile duct is any of a number of long tube-like structures that carry bile. ... Cirrhosis is a consequence of chronic liver disease characterized by replacement of liver tissue by fibrotic scar tissue as well as regenerative nodules, leading to progressive loss of liver function. ... A representation of the 3D structure of myoglobin showing coloured alpha helices. ... This article is about the clotting of blood. ...

Endocrine disease and growth

Clubbing Patients with CF can often have enlargement of their fingers, Extreme case shown here.

The pancreas contains the islets of Langerhans, which are responsible for making insulin, a hormone that helps regulate blood glucose. Damage of the pancreas can lead to loss of the islet cells, leading to diabetes that is unique to those with the disease.^[12] Cystic Fibrosis Related Diabetes (CFRD), as it is known as, shares characteristics that can be found in Type 1 and Type 2 diabetics and is one of the principal non-pulmonary complications of CF.^[13] Vitamin D is involved in calcium and phosphorus regulation. Poor uptake of vitamin D from the diet because of malabsorption leads to the bone disease osteoporosis in which weakened bones are more susceptible to fractures.^[14] In addition, people with CF often develop clubbing of their fingers and toes due to the effects of chronic illness and low oxygen on their tissues. Image File history File links Download high resolution version (1572x900, 132 KB) example of clubbing secondary to pulmonary hypertension in a patient with Eisenmengers syndrome taken 10 March 205 by Ann McGrath File links The following pages link to this file: Clubbing ... Image File history File links Download high resolution version (1572x900, 132 KB) example of clubbing secondary to pulmonary hypertension in a patient with Eisenmengers syndrome taken 10 March 205 by Ann McGrath File links The following pages link to this file: Clubbing ... A porcine islet of Langerhans. ... Glucose (Glc), a monosaccharide (or simple sugar), is an important carbohydrate in biology. ... Drawing of the structure of cork as it appeared under the microscope to Robert Hooke from Micrographia which is the origin of the word cell being used to describe the smallest unit of a living organism Cells in culture, stained for keratin (red) and DNA (green) The cell is the... This article is about the disease that features high blood sugar. ... This article is about the disease that features high blood sugar. ... For other uses, see Calcium (disambiguation). ... General Name, symbol, number phosphorus, P, 15 Chemical series nonmetals Group, period, block 15, 3, p Appearance waxy white/ red/ black/ colorless Standard atomic weight 30. ... Osteoporosis is a disease of bone - leading to an increased risk of fracture. ... Internal and external views of an arm with a compound fracture, both before and after surgery A bone fracture is a medical condition in which a bone has cracked or broken. ... For other uses, see Clubbing (disambiguation). ... Hypoxia is a pathological condition in which the body as a whole (generalised hypoxia) or region of the body (tissue hypoxia) is deprived of adequate oxygen supply. ...

Poor growth is a hallmark of CF. Children with CF typically do not gain weight or height at the same rate as their peers, and occasionally are not diagnosed until investigation is initiated for poor growth. The causes of growth failure are multi–factorial and include chronic lung infection, poor absorption of nutrients through the gastrointestinal tract, and increased metabolic demand due to chronic illness.

Infertility

Infertility affects both men and women. At least 97 percent of men with cystic fibrosis are sterile.^[15] These men make normal sperm but are missing the tube (vas deferens), which connects the testes to the ejaculatory ducts of the penis.^[16] Many men found to have congenital absence of the vas deferens during evaluation for infertility have a mild, previously undiagnosed form of CF.^[17] Some women have fertility difficulties due to thickened cervical mucus or malnutrition. In severe cases, malnutrition disrupts ovulation and causes amenorrhea.^[18] Infertility primarily refers to the biological inability of a man or a woman to contribute to conception. ... A spermatozoon or spermatozoan ( spermatozoa), from the ancient Greek σπέρμα (seed) and (living being) and more commonly known as a sperm cell, is the haploid cell that is the male gamete. ... The vas deferens (plural: vasa deferentia), also called ductus deferens, (Latin: carrying-away vessel) is part of the male anatomy of some species, including humans. ... Look up testes in Wiktionary, the free dictionary. ... The Ejaculatory ducts are part of the human male anatomy, which cause the reflex action of ejaculation. ... The penis (plural penises, penes) is an external male sexual organ. ... Congenital absence of the vas deferens (CAVD) is a condition in which the two vas deferens, male reproductive organs, fail to form properly prior to birth. ... Ovulation is the process in the menstrual cycle by which a mature ovarian follicle ruptures and discharges an ovum (also known as an oocyte, female gamete, or casually, an egg) that participates in reproduction. ... Amenorrhoea (BE) or amenorrhea (AmE) is the absence of a menstrual period in a woman of reproductive age. ...

Diagnosis and monitoring

Cystic fibrosis may be diagnosed by many different categories of testing including those such as, newborn screening, sweat testing, or genetic testing. As of 2006 in the United States, 10 percent of cases are diagnosed shortly after birth as part of newborn screening programs. The newborn screen initially measures for raised blood concentration of immunoreactive trypsinogen.^[19] However, most states and countries do not screen for CF routinely at birth. Therefore, most individuals are diagnosed after symptoms prompt an evaluation for cystic fibrosis. The most commonly-used form of testing is the sweat test. Sweat-testing involves application of a medication that stimulates sweating (pilocarpine) to one electrode of an apparatus and running electric current to a separate electrode on the skin. This process, called iontophoresis, causes sweating; the sweat is then collected on filter paper or in a capillary tube and analyzed for abnormal amounts of sodium and chloride. People with CF have increased amounts of sodium and chloride in their sweat. CF can also be diagnosed by identification of mutations in the CFTR gene.^[20] Newborn screening is the process of testing newborn babies for treatable genetic, endocrinologic, metabolic and hematologic diseases. ... A sweat test is performed to determine the amount of chloride and sodium that is excreted in sweat from the body during during a certain period of time. ... Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ... Pilocarpine is a muscarinic alkaloid obtained from the leaves of tropical American shrubs from the genus Pilocarpus. ... For other uses, see Electrode (disambiguation). ... This box:      Electric current is the flow (movement) of electric charge. ... Iontophoresis is a non-invasive method of propelling high concentrations of a charged substance, normally medication or bioactive-agents, transdermally by repulsive electromotive force using a small electrical charge applied to an iontophoretic chamber containing a similarly charged active agent and its vehicle. ... For sodium in the diet, see Salt. ... The chloride ion is formed when the element chlorine picks up one electron to form an anion (negatively-charged ion) Cl−. The salts of hydrochloric acid HCl contain chloride ions and can also be called chlorides. ...

A multitude of tests is used to identify complications of CF and to monitor disease progression. X-rays and CAT scans are used to examine the lungs for signs of damage or infection. Examination of the sputum under a microscope is used to identify which bacteria are causing infection so that effective antibiotics can be given. Pulmonary function tests measure how well the lungs are functioning, and are used to measure the need for and response to antibiotic therapy. Blood tests can identify liver problems, vitamin deficiencies, and the onset of diabetes. DEXA scans can screen for osteoporosis and testing for fecal elastase can help diagnose insufficient digestive enzymes. Image A: A normal chest X-ray. ... negron305 Cat scan redirects here. ... A sputum culture is a test to detect and identify bacteria or fungi that are infecting the lungs or breathing passages. ... A microscope (Greek: (micron) = small + (skopein) = to look at) is an instrument for viewing objects that are too small to be seen by the naked or unaided eye. ... Antibiotic resistance is the ability of a microorganism to withstand the effects of an antibiotic. ... Flow-Volume loop showing successful FVC maneuver. ... Blood tests are laboratory tests done on blood to gain an appreciation of disease states and the function of organs. ... Dual energy X-ray absorptiometry (DXA, previously DEXA) is a means of measuring bone mineral density (BMD). ... Screening, in medicine, is a strategy used to identify disease in an unsuspecting population. ... Fecal elastase refers to the testing of the concentration of the pancreatic elastase-1 enzyme found in fecal matter with an enzyme-linked immunosorbent assay (ELISA). ...

Prenatal diagnosis

Couples who are pregnant or who are planning a pregnancy can themselves be tested for CFTR gene mutations to determine the likelihood that their child will be born with cystic fibrosis. Testing is typically performed first on one or both parents and, if the risk of CF is found to be high, testing on the fetus can then be performed. Cystic fibrosis testing is offered to many couples in the US.^[21] The American College of Obstetricians and Gynecologists (ACOG) recommends testing for couples who have a personal or close family history. Additionally, ACOG recommends that carrier testing be offered to all Caucasian couples and be made available to couples of other ethnic backgrounds.^[22] For other uses, see Fetus (disambiguation). ... The American College of Obstetricians and Gynecologists (ACOG) is a professional association of medical doctors specializing in obstetrics and gynecology in the United States. ...

Because development of CF in the fetus requires each parent to pass on a mutated copy of the CFTR gene and because CF testing is expensive, testing is often performed on just one parent initially. If that parent is found to be a carrier of a CFTR gene mutation, the other parent is then tested to calculate the risk that their children will have CF. CF can result from more than a thousand different mutations and, as of 2006, it is not possible to test for each one. Testing analyzes the blood for the most common mutations such as ΔF508 — most commercially available tests look for 32 or fewer different mutations. If a family has a known uncommon mutation, specific screening for that mutation can be performed. Because not all known mutations are found on current tests, a negative screen does not guarantee that a child will not have CF.^[23] In addition, because the mutations tested are necessarily those most common in the highest risk groups, testing in lower risk ethnicities is less successful because the mutations commonly seen in these groups are less common in the general population. These couples may therefore consider testing through labs that offer CF screens with a high number of mutations tested.

Couples who are at high risk for having a child with CF will often opt to perform further testing before or during pregnancy. In vitro fertilization with preimplantation genetic diagnosis offers the possibility to examine the embryo prior to its placement into the uterus. The test, performed 3 days after fertilization, looks for the presence of abnormal CF genes. If two mutated CFTR genes are identified, the embryo is not used for embryo transfer and an embryo with at least one normal gene is implanted. In vitro fertilization (IVF) is a technique in which egg cells are fertilized outside the mothers body in cases where conception is difficult or impossible through normal intercourse. ... In medicine and (clinical) genetics preimplantation genetic diagnosis (PGD) (or also known as Embryo Screening) refers to procedures that are performed on embryos prior to implantation, sometimes even on oocytes prior to fertilization. ... For other uses, see Embryo (disambiguation). ... Categories: Biology stubs ... Embryo transfer refers to a step in the process of in vitro fertilization (IVF) whereby one or several embryos are placed into the uterus of the female with the intent to establish a pregnancy. ...

During pregnancy, testing can be performed on the placenta (chorionic villus sampling) or the fluid around the fetus (amniocentesis). However, chorionic villus sampling has a risk of fetal death of 1 in 100 and amniocentesis of 1 in 200,^[24] so the benefits must be determined to outweigh these risks prior to going forward with testing. Alternatively, some couples choose to undergo third party reproduction with egg or sperm donors. The placenta (Latin for cake, referencing its appearance in humans) is an ephemeral organ present in placental vertebrates, such as eutherial mammals and sharks during gestation (pregnancy). ... Chorionic villus sampling (CVS) is a form of prenatal diagnosis to determine genetic abnormalities in the fetus. ... Amniocentesis (also referred to as amniotic fluid test or AFT), is a medical procedure used in prenatal diagnosis of genetic risk factors, in which a small amount of amniotic fluid, which contains fetal tissues, is extracted from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA... Chorionic villus sampling (CVS) is a form of prenatal diagnosis to determine genetic abnormalities in the fetus. ... Third party reproduction refers to a process where another person provides sperm or eggs or where another woman provides her uterus so that a woman can have a child. ... An egg donor is a woman who provides usually several eggs (ova, oocytes) for another person or couple who want to have a child. ... Sperm donation is the practice by which a man donates his semen to be used specifically to produce a baby. ...

Pathophysiology

Cystic fibrosis occurs when there is a mutation in the CFTR gene. The protein created by this gene is anchored to the outer membrane of cells in the sweat glands, lungs, pancreas, and other affected organs. The protein spans this membrane and acts as a channel connecting the inner part of the cell (cytoplasm) to the surrounding fluid. In the airway this channel is primarily responsible for controlling the movement of chloride from inside to outside of the cell, however in the sweat ducts it facilitates the movement of chloride from the sweat into the cytoplasm. When the CFTR protein does not work, chloride is trapped inside the cells in the airway and outside in the skin. Because chloride is negatively charged, positively charged ions also cannot cross into the cell because they are affected by the electrical attraction of the chloride ions. Sodium is the most common ion in the extracellular space and the combination of sodium and chloride creates the salt, which is lost in high amounts in the sweat of individuals with CF. This lost salt forms the basis for the sweat test.^[2] The cell membrane (also called the plasma membrane, plasmalemma or phospholipid bilayer) is a selectively permeable lipid bilayer found in all cells. ... Drawing of the structure of cork as it appeared under the microscope to Robert Hooke from Micrographia which is the origin of the word cell being used to describe the smallest unit of a living organism Cells in culture, stained for keratin (red) and DNA (green) The cell is the... In humans, there are four kinds of sudoriferous or sweat glands which differ greatly in both the composition of the sweat and its purpose. ... This article is about the biological unit. ... Ion channels are pore-forming proteins that help to establish and control the small voltage gradient that exists across the plasma membrane of all living cells (see cell potential) by allowing the flow of ions down their electrochemical gradient. ... Schematic showing the cytoplasm, with major components of a typical animal cell. ... In some animals, including mammals, the two types of extracellular fluids are interstitial fluid and blood plasma. ... This box:      Electric charge is a fundamental conserved property of some subatomic particles, which determines their electromagnetic interaction. ... This article is about the electrically charged particle. ... Electrostatics (also known as static electricity) is the branch of physics that deals with the phenomena arising from what seem to be stationary electric charges. ... R-phrases 36 S-phrases none Flash point Non-flammable Related Compounds Other anions NaF, NaBr, NaI Other cations LiCl, KCl, RbCl, CsCl, MgCl2, CaCl2 Related salts Sodium acetate Supplementary data page Structure and properties n, εr, etc. ...

How this malfunction of cells in cystic fibrosis causes the clinical manifestations of CF is not well understood. One theory suggests that the lack of chloride exodus through the CFTR protein leads to the accumulation of more viscous, nutrient-rich mucus in the lungs that allows bacteria to hide from the body's immune system. Another theory proposes that the CFTR protein failure leads to a paradoxical increase in sodium and chloride uptake, which, by leading to increased water reabsorption, creates dehydrated and thick mucus. Yet another theory focuses on abnormal chloride movement out of the cell, which also leads to dehydration of mucus, pancreatic secretions, biliary secretions, etc. These theories all support the observation that the majority of the damage in CF is due to blockage of the narrow passages of affected organs with thickened secretions. These blockages lead to remodeling and infection in the lung, damage by accumulated digestive enzymes in the pancreas, blockage of the intestines by thick faeces, etc.^[2] A scanning electron microscope image of a single neutrophil (yellow), engulfing anthrax bacteria (orange). ...

The role of chronic infection in lung disease

The lungs of individuals with cystic fibrosis are colonized and infected by bacteria from an early age. These bacteria, which often spread amongst individuals with CF, thrive in the altered mucus, which collects in the small airways of the lungs. This mucus encourages the development of bacterial microenvironments (biofilms) that are difficult for immune cells (and antibiotics) to penetrate. The lungs respond to repeated damage by thick secretions and chronic infections by gradually remodeling the lower airways (bronchiectasis), making infection even more difficult to eradicate.^[25] Staphylococcus aureus biofilm on an indwelling catheter. ...

Over time, both the types of bacteria and their individual characteristics change in individuals with CF. In the initial stage, common bacteria such as Staphylococcus aureus and Hemophilus influenzae colonize and infect the lungs. Eventually, however, Pseudomonas aeruginosa (and sometimes Burkholderia cepacia) dominates. Once within the lungs, these bacteria adapt to the environment and develop resistance to commonly used antibiotics. Pseudomonas can develop special characteristics that allow the formation of large colonies, known as "mucoid" Pseudomonas and rarely seen in people that do not have CF.^[25] Binomial name Rosenbach 1884 Staphylococcus aureus , literally Golden Cluster Seed and also known as golden staph, is the most common cause of staph infections. ... Binomial name Haemophilus influenzae Lehmann & Neumann, 1896 Haemophilus influenzae, formerly called Pfeiffers bacillus, is a non-motile Gram-negative coccobacillus first described in 1892 by Dr. Robert Pfeiffer during the influenza pandemic. ... Binomial name Pseudomonas aeruginosa (Schroeter 1872) Migula 1900 Synonyms Bacterium aeruginosum Schroeter 1872 Bacterium aeruginosum Cohn 1872 Micrococcus pyocyaneus Zopf 1884 Bacillus aeruginosus (Schroeter 1872) Trevisan 1885 Bacillus pyocyaneus (Zopf 1884) Flügge 1886 Pseudomonas pyocyanea (Zopf 1884) Migula 1895 Bacterium pyocyaneum (Zopf 1884) Lehmann and Neumann 1896 Pseudomonas polycolor... Burkholderia cepacia complex or simply Burkholderia cepacia is a group of catalase-producing, non-lactose-fermenting Gram-negative bacteria composed of at least seven different species, including Burkholderia multivorans, Burkholderia vietnamiensis, Burkholderia stabilis, and Burkholderia ambifaria. ... Antibiotic resistance is the ability of a microorganism to withstand the effects of an antibiotic. ...

One way in which infection has spread is by passage between different individuals with CF.^[26] In the past, people with CF often participated in summer "CF Camps" and other recreational gatherings.^[27][28] Hospitals grouped patients with CF into common areas and routine equipment (such as nebulizers)^[29] was not sterilized between individual patients.^[30] This led to transmission of more dangerous strains of bacteria among groups of patients. As a result, individuals with CF are routinely isolated from one another in the healthcare setting and healthcare providers are encouraged to wear gowns and gloves when examining patients with CF in order to limit the spread of virulent bacterial strains.^[31] Often, patients with particularly damaging bacteria will attend clinics on different days and in different buildings than those without these infections. A nebulizer with an attached inhaling apparatus In medicine, a nebulizer is a device used to administer medication to people in forms of a liquid mist to the airways. ...

Molecular biology

CFTR protein - Molecular structure of the CFTR protein

The CFTR gene is found at the q31.2 locus of chromosome 7, is 230 000 base pairs long, and creates a protein that is 1,480 amino acids long. The most common mutation, ΔF508 is a deletion (Δ) of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th (508) position on the protein. This mutation accounts for seventy percent of CF worldwide and 90 percent of cases in the United States. There are over 1,400 other mutations that can produce CF, however. In Caucasian populations, the frequency of mutations is as follows:^[32] Image File history File linksMetadata CFTR.jpg Summary CFTR cartoon from 1989 Journal of NIH Research, defunct since 1997 but previously a NIH (US government) publication Licensing File history Legend: (cur) = this is the current file, (del) = delete this old version, (rev) = revert to this old version. ... Image File history File linksMetadata CFTR.jpg Summary CFTR cartoon from 1989 Journal of NIH Research, defunct since 1997 but previously a NIH (US government) publication Licensing File history Legend: (cur) = this is the current file, (del) = delete this old version, (rev) = revert to this old version. ... The location of the CFTR gene on chromosome 7 CFTR (cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)) is a human gene that provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. ... Short and long arms Chromosome. ... Chromosome 7 is one of the 23 pairs of chromosomes in humans. ... Base pairs, of a DNA molecule. ... This article is about the class of chemicals. ... ΔF508 is a specific mutation within the human genome. ... Phenyl alanine is an α-amino acid with the formula HO2CCH(NH2)CH2C6H5. ... For the peoples actually from the Caucasus, see Peoples of the Caucasus. ...

There are several mechanisms by which these mutations cause problems with the CFTR protein. ΔF508, for instance, creates a protein that does not fold normally and is degraded by the cell. Several mutations, which are common in the Ashkenazi Jewish population, result in proteins that are too short because production is ended prematurely. Less common mutations produce proteins that do not use energy normally, do not allow chloride to cross the membrane appropriately, or are degraded at a faster rate than normal. Mutations may also lead to fewer copies of the CFTR protein being produced.^[2] Protein before and after folding. ... Translation is the second process of protein biosynthesis (part of the overall process of gene expression). ...

The location of the CFTR gene on chromosome 7

Structurally, CFTR is a type of gene known as an ABC gene.^[2] Its protein possesses two ATP-hydrolyzing domains which allows the protein to use energy in the form of ATP. It also contains two domains comprised of 6 alpha helices apiece, which allow the protein to cross the cell membrane. A regulatory binding site on the protein allows activation by phosphorylation, mainly by cAMP-dependent protein kinase.^[2] The carboxyl terminal of the protein is anchored to the cytoskeleton by a PDZ domain interaction.^[33] Image File history File links Mucoviscidose. ... Image File history File links Mucoviscidose. ... ATP-binding cassette transporter genes (ABC-transporter genes) are a superfamily of genes which encode the ABC-transporter proteins. ... This is the reaction by which chemical energy that has been stored and transported in the high-energy phosphodiester bonds in ATP is released, for example in the muscles, to produce work. ... Within a protein, a structural domain (domain) is an element of overall structure that is self-stabilizing and often folds independently of the rest of the protein chain. ... Adenosine 5-triphosphate (ATP) is a multifunctional nucleotide that is most important as a molecular currency of intracellular energy transfer. ... Side view of an α-helix of alanine residues in atomic detail. ... A binding site is a region on a protein to which specific ligands bind. ... A phosphorylated serine residue Phosphorylation is the addition of a phosphate (PO4) group to a protein molecule or a small molecule. ... In cell biology, cAMP-dependent protein kinase (cAPK), also known as protein kinase A (PKA, EC 2. ... The C-terminal end refers to the extremity of a protein or polypeptide terminated by an amino acid with a free carboxyl group (COOH). ... The eukaryotic cytoskeleton. ... PDZ refers to a common structural domain of 80-90 amino-acids found in the signaling proteins of bacteria, yeast, plants, and animals. ...

Treatment

A typical breathing treatment for cystic fibrosis, using a mask nebuliser and the ThAIRapy Vest

The cornerstones of management are proactive treatment of airway infection, and encouragement of good nutrition and an active lifestyle. The treatment for cystic fibrosis continues throughout a patient's life, and is aimed at maximizing organ function, and therefore quality of life. At best, current treatments delay the decline in organ function. Treatment typically occurs at specialist multidisciplinary centres, and is tailored to the individual, because of the wide variation in disease symptoms. Targets for therapy are the lungs, gastrointestinal tract (including insulin treatment), the reproductive organs (including Assisted Reproductive Technology (ART)) and psychological support.^[34] In addition, therapies such as transplantation and gene therapy aim to cure some of the effects of cystic fibrosis. Image File history File linksMetadata CFtreatmentvest2. ... Image File history File linksMetadata CFtreatmentvest2. ... The ThAIRapy Vest is a airway clearance system that is used in the treatment of cystic fibrosis and is gaining use in the treatment of bronchiectasis, COPD, cerebral palsy and muscular dystrophy. ... Respiratory tract infections can refer to: Lower respiratory tract infection Upper respiratory tract infection Category: ... The heart and lungs (from an older edition of Grays Anatomy) The lung is an organ belonging to the respiratory system and interfacing to the circulatory system of air-breathing vertebrates. ... Gut redirects here. ... Not to be confused with inulin. ... A sex organ, or primary sexual characteristic, narrowly defined, is any of those parts of the body (which are not always bodily organs according to the strict definition) which are involved in sexual reproduction and constitute the reproductive system in a complex organism; namely: Male: penis (notably the glans penis... Assisted reproductive technology (ART) is a general term referring to methods used to achieve pregnancy by artificial or partially artificial means. ... Transplant redirects here. ... Gene therapy is the insertion of genes into an individuals cells and tissues to treat a disease, and hereditary diseases in which a defective mutant allele is replaced with a functional one. ...

The most consistent aspect of therapy in cystic fibrosis is limiting and treating the lung damage caused by thick mucus and infection with the goal of maintaining quality of life. Intravenous, inhaled, and oral antibiotics are used to treat chronic and acute infections. Mechanical devices and inhalation medications are used to alter and clear the thickened mucus. This article is about the economic and philosophical concept. ... Intravenous therapy or IV therapy is the giving of liquid substances directly into a vein. ... Inhalation is the movement of air from the external environment, through the airways, into the alveoli during breathing. ...

Antibiotics to treat lung disease

Antibiotics are given whenever pneumonia is suspected or there has been a decline in lung function. Antibiotics are often chosen based on information about prior infections. Many bacteria common in cystic fibrosis are resistant to multiple antibiotics and require weeks of treatment with intravenous antibiotics such as vancomycin, tobramycin, meropenem, ciprofloxacin, and piperacillin. This prolonged therapy often necessitates hospitalization and insertion of a more permanent IV such as a PICC line or Port-a-Cath. Inhaled therapy with antibiotics such as tobramycin and colistin is often given for months at a time in order to improve lung function by impeding the growth of colonized bacteria.^[35][36] Oral antibiotics such as ciprofloxacin or azithromycin are sometimes given to help prevent infection or to control ongoing infection.^[37] Some individuals spend years between hospitalizations for antibiotics, whereas others require several antibiotic treatments each year. An antibiotic is a drug that kills or slows the growth of bacteria. ... Crystal structure of a short peptide L-Lys-D-Ala-D-Ala (bacterial cell wall precursor, in green) bound to vancomycin (blue) through hydrogen bonds. ... Tobramycin sulfate is an aminoglycoside antibiotic used to treat various types of bacterial infections, particularly Gram-negative infections. ... Meropenem is an ultra-broad spectrum injectable antibiotic used to treat a wide variety of infections, including meningitis and pneumonia. ... Ciprofloxacin is the generic international name for the synthetic antibiotic manufactured and sold by Bayer Pharmaceutical under the brand names Cipro, Ciproxin and Ciprobay (and other brand names in other markets, e. ... Piperacillin is an extended spectrum beta-lactam antibiotic of the ureidopenicillin class. ... Intravenous therapy or IV therapy is the giving of liquid substances directly into a vein. ... Correct position of PICC line on chest x-ray A peripherally inserted central catheter (PICC or PIC line) is a form of intravenous access that can be used for a prolonged period of time, e. ... Port-a-Cath device. ... Colistin (polymyxin E) is a polymyxin antibiotic produced by certain strains of Bacillus polymyxa var. ... Azithromycin is an azalide, a subclass of macrolide antibiotics. ...

Several common antibiotics such as tobramycin and vancomycin can cause hearing loss or kidney problems with long-term use. In order to prevent these side-effects, the amount of antibiotics in the blood are routinely measured and adjusted accordingly. Ototoxicity is damage of the ear (oto), specifically the cochlea or auditory nerve and sometimes the vestibulum, by a toxin (often medication). ... Renal failure or kidney failure is a situation in which the kidneys fail to function adequately. ... An adverse drug reaction (abbreviated ADR) or adverse drug event (abbreviated ADE) is an expression that describes the unwanted, negative consequences associated with the use of given medications. ...

Other methods to treat lung disease

Several mechanical techniques are used to dislodge sputum and encourage its expectoration. In the hospital setting, physical therapy is utilized; a therapist pounds an individual's chest with his or her hands several times a day. Devices that recreate this percussive therapy include the ThAIRapy Vest and the intrapulmonary percussive ventilator (IPV). Newer methods such as Biphasic Cuirass Ventilation, and associated clearance mode available in such devices, now integrate a cough assistance phase, as well as a vibration phase for dislodging secretions. Biphasic Cuirass Ventilation is also shown to provide a bridge to transplantation. These are portable and adapted for home use.^[38] Aerobic exercise is of great benefit to people with cystic fibrosis. Not only does exercise increase sputum clearance but it also improves cardiovascular and overall health. The ThAIRapy Vest is a airway clearance system that is used in the treatment of cystic fibrosis and is gaining use in the treatment of bronchiectasis, COPD, cerebral palsy and muscular dystrophy. ... An intrapulmonary percussive ventilator machine Intrapulmonary percussive ventilators (IPV) are machines which deliver short bursts of air through a mouthpiece to help individuals with lung disease clear sputum. ... This article or section does not cite its references or sources. ... This article or section does not cite its references or sources. ... Aerobic exercise refers to exercise that is of moderate intensity, undertaken for a long duration. ...

Aerosolized medications that help loosen secretions include dornase alfa and hypertonic saline.^[39] Dornase is a recombinant human deoxyribonuclease, which breaks down DNA in the sputum, thus decreasing its viscosity.^[40] N-Acetylcysteine may also decrease sputum viscosity, but research and experience have shown its benefits to be minimal. Albuterol and ipratropium bromide are inhaled to increase the size of the small airways by relaxing the surrounding muscles. A box of Pulmozyme Dornase alfa (Pulmozyme®) is a highly purified solution of recombinant human deoxyribonuclease I (rhDNase), an enzyme which selectively cleaves DNA. Pulmozyme hydrolyzes the DNA in sputum/mucus of CF patients and reduces viscoelasticity in the lungs, promoting improved clearance of secretions. ... Effect of different solutions on blood cells Plant cell under different environments In biology, a hypertonic cell environment has a higher concentration of solutes than inside the animal or plant cell. ... In medicine, saline is a solution of sodium chloride (a substance also commonly known as table salt) in sterile water, used frequently for intravenous infusion, rinsing contact lenses, and nasal irrigation (or the yogic practice called jala neti). ... Recombinant DNA (rDNA) is an artificial DNA sequence resulting from the combination of different DNA sequences. ... A deoxyribonuclease (DNase, for short) is any enzyme that catalyzes the hydrolytic cleavage of phosphodiester linkages in the DNA backbone. ... This article does not cite any references or sources. ... For other uses, see Viscosity (disambiguation). ... Acetylcysteine (rINN) (IPA: ), also known as N-acetylcysteine (abbreviated NAC), is a pharmacological agent used mainly as a mucolytic and in the management of paracetamol overdose. ... Salbutamol (INN) or albuterol (USAN) is a short-acting β2-adrenergic receptor agonist used for the relief of bronchospasm in conditions such as asthma and COPD. It is marketed by the Allen & Hanburys respiratory division of GlaxoSmithKline under the trade name Ventolin. ... Ipratropium is an anticholinergic drug (trade name: Atrovent®) administered by inhalation for the treatment of obstructive lung diseases. ...

As lung disease worsens, breathing support from machines may become necessary. Individuals with CF may need to wear special masks at night that help push air into their lungs. These machines, known as bilevel positive airway pressure (BiPAP) ventilators, help prevent low blood oxygen levels during sleep. BiPAP may also be used during physical therapy to improve sputum clearance.^[41] During severe illness, people with CF may need to have a tube placed in their throats and their breathing supported by a ventilator. Bilevel Positive Airway Pressure (or BiPAP) is a method of respiratory ventilation used primarily in the treatment of sleep apnea and various lung diseases. ... This article or section needs copy editing for grammar, style, cohesion, tone and/or spelling. ...

Treatment of other aspects of CF

Intracytoplasmic sperm injection is used to provide fertility for men with cystic fibrosis.

Newborns with meconium ileus typically require surgery, whereas adults with distal intestinal obstruction syndrome typically do not. Treatment of pancreatic insufficiency by replacement of missing digestive enzymes allows the duodenum to properly absorb nutrients and vitamins that would otherwise be lost in the faeces. Even so, most individuals with CF take additional amounts of vitamins A, D, E, and K and eat high-calorie meals. It should be noted, however, that nutritional advice given to patients is, at best, mixed: Often, literature encourages the eating of high-fat foods without differentiating between saturated and unsaturated fats/trans-fats; this lack of clear information runs counter to health advice given to the general population, and creates the risk of further serious health problems for people with cystic fibrosis as they grow older. So far, no large-scale research involving the incidence of atherosclerosis and coronary heart disease in adults with cystic fibrosis has been conducted. Image File history File links ICSI sperm injection into oocyte File history Legend: (cur) = this is the current file, (del) = delete this old version, (rev) = revert to this old version. ... Image File history File links ICSI sperm injection into oocyte File history Legend: (cur) = this is the current file, (del) = delete this old version, (rev) = revert to this old version. ... In sciences dealing with the anatomy of animals, precise anatomical terms of location are necessary for a variety of reasons. ... The structure of retinol, the most common dietary form of vitamin A Vitamin A is an essential human nutrient. ... Vitamin D is a fat soluble vitamin that contributes to the maintenance of normal levels of calcium and phosphorus in the bloodstream. ... Tocopherol, or Vitamin E, is a fat-soluble vitamin in eight forms that is an important antioxidant. ... Vitamin K1 (phylloquinone). ... Saturated fat is fat that consists of triglycerides containing only saturated fatty acids. ... An unsaturated fat is a fat or fatty acid in which there are one or more double bonds in the fatty acid chain. ... A trans fatty acid (commonly shortened to trans fat) is an unsaturated fatty acid molecule that contains a trans double bond between carbon atoms, which makes the molecule less kinked compared to cis fat. Research suggests a correlation between diets high in trans fats and diseases like atherosclerosis and coronary... Coronary heart disease (CHD), also called coronary artery disease (CAD), ischaemic heart disease, atherosclerotic heart disease, is the end result of the accumulation of atheromatous plaques within the walls of the arteries that supply the myocardium (the muscle of the heart) with oxygen and nutrients. ...

The diabetes common to many CF patients is typically treated with insulin injections or an insulin pump.^[42] Development of osteoporosis can be prevented by increased intake of vitamin D and calcium, and can be treated by bisphosphonates.^[43] Poor growth may be avoided by insertion of a feeding tube for increasing calories through supplemental feeds or by administration of injected growth hormone.^[44] For the disease characterized by excretion of large amounts of very dilute urine, see diabetes insipidus. ... Not to be confused with inulin. ... Insulin pump attached to its user with an infusion set. ... For other uses, see Calcium (disambiguation). ... In pharmacology, bisphosphonates (also called: diphosphonates) is a class of drugs that inhibits the resorption of bone. ... A feeding tube is a medical device used to provide nutrition to patients who cannot or refuse to (q. ... Etymology: French calorie, from Latin calor (heat), from calere (to be warm). ... Growth hormone (GH) or somatotropin (STH) is a protein hormone which stimulates growth and cell reproduction in humans and other animals. ...

Sinus infections are treated by prolonged courses of antibiotics. The development of nasal polyps or other chronic changes within the nasal passages may severely limit airflow through the nose. Sinus surgery is often used to alleviate nasal obstruction and to limit further infections. Nasal steroids such as fluticasone are used to decrease nasal inflammation.^[45] Female infertility may be overcome by assisted reproduction technology, particularly embryo transfer techniques. Male infertility may be overcome with intracytoplasmic sperm injection.^[46] Third party reproduction is also a possibility for women with CF. Fluticasone proprionate is a glucocorticoid often prescribed as treatment for asthma and allergic rhinitis. ... For the Inter-Varsity Fellowship, see Universities and Colleges Christian Fellowship. ... Embryo transfer refers to a step in the process of in vitro fertilization (IVF) whereby one or several embryos are placed into the uterus of the female with the intent to establish a pregnancy. ... Oocyte is injected during ICSI Intracytoplasmic sperm injection (ICSI) is an in vitro fertilization procedure in which a single sperm is injected directly into an egg; this procedure is most commonly used to overcome male infertility problems. ... Embryo transfer refers to a step in the process of in vitro fertilization (IVF) whereby one or several embryos are placed into the uterus of the female with the intent to establish a pregnancy. ...

Transplantation and gene therapy

Lung transplantation often becomes necessary for individuals with cystic fibrosis as lung function and exercise tolerance declines. Although single lung transplantation is possible in other diseases, individuals with CF must have both lungs replaced because the remaining lung would contain bacteria that could infect the transplanted lung. A pancreatic or liver transplant may be performed at the same time in order to alleviate liver disease and/or diabetes.^[47] Lung transplantation is considered when lung function approaches a point where it threatens survival or requires assistance from mechanical devices.^[48] Exercise Intolerance is a medical term used to describe a condition where the patient who is unable to do physical exercise at the level that would be expected of someone in his or her general physical condition, or who experiences unusually severe post-exercise pain, fatigue, or other negative effects. ...

Gene therapy holds promise as a potential avenue to cure cystic fibrosis. Gene therapy attempts to place a normal copy of the CFTR gene into affected cells. Studies have shown that to prevent the lung manifestations of cystic fibrosis, only 5–10% the normal amount of CFTR gene expression is needed.^[49] Many approaches have been theorized and several clinical trials have been initiated but, as of 2006, many hurdles still exist before gene therapy can be successful.^[50] Gene therapy is the insertion of genes into an individuals cells and tissues to treat a disease, and hereditary diseases in which a defective mutant allele is replaced with a functional one. ... Gene expression, or simply expression, is the process by which the inheritable information which comprises a gene, such as the DNA sequence, is made manifest as a physical and biologically functional gene product, such as protein or RNA. Several steps in the gene expression process may be modulated, including the...

Prognosis

In most cases, CF causes an early death. Average life expectancy is around 36.8 years, although improvements in treatments mean a baby born today could expect to live longer.^[51]

Epidemiology

Cystic Fibrosis has an autosomal recessive pattern of inheritance.

Cystic fibrosis is the most common life-limiting autosomal recessive disease among people of European heritage. In the United States, approximately 30,000 individuals have CF; most are diagnosed by six months of age. Canada has approximately 3,000 citizens with CF. Approximately 1 in 25 people of European descent and 1 in 22 people of Ashkenazi Jewish descent is a carrier of a cystic fibrosis mutation. Although CF is less common in these groups, approximately 1 in 46 Hispanics, 1 in 65 Africans and 1 in 90 Asians carry at least one abnormal CFTR gene.^[52][53][54] Wikipedia does not yet have an article with this exact name. ... Wikipedia does not yet have an article with this exact name. ... For other uses, see Europe (disambiguation). ... Language(s) Yiddish, Hebrew, Russian, English Religion(s) Judaism Related ethnic groups Sephardi Jews, Mizrahi Jews, and other Jewish ethnic divisions Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim (Standard Hebrew: sing. ... Hispanic (Spanish: ; Portuguese: ; Latin: , adjective from Hispānia, the Roman name for the Iberian Peninsula) is a term that historically denoted relation to the ancient Hispania and its peoples. ... A world map showing the continent of Africa Africa is the worlds second-largest and second most-populous continent, after Asia. ... Asian people[1] is a demonym for people from Asia. ...

Cystic fibrosis is diagnosed in males and females equally. For unclear reasons, males tend to have a longer life expectancy than females.^[55] Life expectancy for people with CF depends largely upon access to health care. In 1959, the median age of survival of children with cystic fibrosis was six months. In the United States, the life expectancy for infants born in 2006 with CF is 36.8 years, based upon data compiled by the Cystic Fibrosis Foundation.^[51] This article is about the measure of remaining life. ... The Cystic Fibrosis Foundation (CFF) is a non-profit organization in the United States established to provide information about cystic fibrosis and to encourage cystic fibrosis research. ...

The Cystic Fibrosis Foundation also compiles lifestyle information about American adults with CF. In 2004, the foundation reported that 91% had graduated high school and 54% had at least some college education. Employment data revealed 12.6% of adults were disabled and 9.9% were unemployed. Marital information showed that 59% of adults were single and 36% were married or living with a partner. In 2004, 191 American women with CF were pregnant. For other uses, see High school (disambiguation). ...

Theories about the prevalence of CF

The ΔF508 mutation is estimated to be up to 52,000 years old.^[56] Numerous hypotheses have been advanced as to why such a lethal mutation has persisted and spread in the human population. Other common autosomal recessive diseases such as sickle-cell anemia have been found to protect carriers from other diseases, a concept known as heterozygote advantage. Resistance to the following have all been proposed as possible sources of heterozygote advantage: ΔF508 is a specific mutation within the human genome. ... Sickle-shaped red blood cells Sickle-cell anemia or anaemia (also sickle-cell disease) is a genetic disorder in which red blood cells may change shape under certain circumstances. ... A heterozygote advantage (heterozygous advantage or overdominance) describes the case in which the heterozygote genotype has a higher relative fitness than either the homozygote dominant or homozygote recessive genotype. ... A heterozygote advantage (heterozygous advantage or overdominance) describes the case in which the heterozygote genotype has a higher relative fitness than either the homozygote dominant or homozygote recessive genotype. ...

• Cholera: With the discovery that cholera toxin requires normal host CFTR proteins to function properly, it was hypothesized that carriers of mutant CFTR genes benefited from resistance to cholera and other causes of diarrhea.^[57] Further studies have not confirmed this hypothesis.^[58][59]
• Typhoid: Normal CFTR proteins are also essential for the entry of Salmonella typhi into cells,^[60] suggesting that carriers of mutant CFTR genes might be resistant to typhoid fever. No in vivo study has yet confirmed this. In both cases, the low level of cystic fibrosis outside of Europe, in places where both cholera and typhoid fever are endemic, is not immediately explicable.
• Diarrhoea: It has also been hypothesized that the prevalence of CF in Europe might be connected with the development of cattle domestication. In this hypothesis, carriers of a single mutant CFTR chromosome had some protection from diarrhoea caused by lactose intolerance, prior to the appearance of the mutations that created lactose tolerance.^[61]
• Tuberculosis: Poolman and Galvani from Yale University have added another possible explanation - that carriers of the gene have some resistance to TB.^[62][63]

Distribution of cholera Cholera, sometimes known as Asiatic cholera or epidemic cholera, is an infectious gastroenteritis caused by the bacterium Vibrio cholerae. ... For other uses, see Toxin (disambiguation). ... Binomial name Salmonella enterica Salmonella enterica is a species of Salmonella bacterium. ... For a similar disease with a similar name, see typhus. ... In epidemiology, an infection is said to be endemic in a population when that infection is maintained in the population without the need for external inputs. ... Yale redirects here. ...

History

National Library of Medicine picture of Dorothy Hansine Andersen. Andersen first described cystic fibrosis of the pancreas.

The name cystic fibrosis refers to the characteristic 'fibrosis' (tissue scarring) of the biliary tract ("cystic" being a generic term for all that is related to the biliary vesicle and/or the bladder), first recognized in the 1930s.^[64] Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply cystic fibrosis.^[65] Although the entire clinical spectrum of CF was not recognized until the 1930s, certain aspects of CF were identified much earlier. Indeed, literature from Germany and Switzerland in the 1700s warned "Wehe dem Kind, das beim Kuß auf die Stirn salzig schmekt, es ist verhext und muss bald sterben," which translates to "Woe is the child kissed on the brow who tastes salty, for he is cursed and soon must die," recognizing the association between the salt loss in CF and illness. Carl von Rokitansky described a case of fetal death with meconium peritonitis, complication of meconium ileus associated with cystic fibrosis. Meconium ileus was first described in 1905 by Karl Landsteiner.^[66] In 1936, Guido Fanconi published a paper describing a connection between celiac disease, cystic fibrosis of the pancreas, and bronchiectasis.^[67] Image File history File links Dorothy_Hansine_Andersen. ... Image File history File links Dorothy_Hansine_Andersen. ... Dorothy Hansine Andersen (May 15, 1901 - 1963) was the physician who identified Cystic fibrosis. ... The pancreas is a gland organ in the digestive and endocrine systems of vertebrates. ... Carl Freiherr¹ von Rokitansky (Czech: Karel Rokytanský) (b. ... Meconium peritonitis refers to rupture of the bowel prior to birth, resulting in fetal stool (meconium) escaping into the surrounding space (peritoneum) leading to inflammation (peritonitis). ... Karl Landsteiner Karl Landsteiner (June 14, 1868 – June 26, 1943), was an Austrian biologist and physician. ... Guido Fanconi was a Swiss pediatrician. ...

In 1938, Dorothy Hansine Andersen published an article titled "Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study" in the American Journal of Diseases of Children. In her paper, she described the characteristic cystic fibrosis of the pancreas correlated it with the lung and intestinal disease prominent in CF.^[64] She also first hypothesized that CF is a recessive disease and first used pancreatic enzyme replacement to treat affected children. In 1952, Paul di Sant' Agnese discovered abnormalities in sweat electrolytes; the sweat test was developed and improved over the next decade.^[68] Dorothy Hansine Andersen (May 15, 1901 - 1963) was the physician who identified Cystic fibrosis. ...

In 1988, the first mutation for CF, ΔF508, was discovered by Francis Collins, Lap-Chee Tsui and John R. Riordan on the seventh chromosome. Research has subsequently found over 1000 different mutations that cause CF. Lap-Chee Tsui led a team of researchers at the Hospital for Sick Children in Toronto that discovered the gene responsible for CF in 1989. Cystic fibrosis represents the first genetic disorder elucidated strictly by the process of reverse genetics. Because mutations in the CFTR gene are typically small, classical genetics techniques were not able to accurately pinpoint the mutated gene.^[69] Using protein markers, gene linkage studies were able to map the mutation to chromosome 7. Chromosome walking and jumping techniques were then used to identify and sequence the gene.^[70] It has been suggested that this article or section be merged with: :cystic fibrosis. ... This article needs to be wikified. ... Professor Dr. Lap-chee Tsui BA, MA, PhD, O.C., O.Ont. ... The Hospital for Sick Children, also known as SickKids, is a world-renowned childrens hospital in Toronto, Ontario, Canada. ... Reverse genetics is an approach to discovering the function of a gene that proceeds in the opposite direction of so called forward genetic screens that are more usual in classical genetics. ... Classical genetics consists of the techniques and methodologies of genetics that predate the advent of molecular biology. ... Genetic linkage occurs when particular alleles are inherited together. ... Chromosome walking is a method in genetics for identifying and sequencing long parts of a DNA strand, e. ... Categories: Wikipedia cleanup | Stub ... The term DNA sequencing encompasses biochemical methods for determining the order of the nucleotide bases, adenine, guanine, cytosine, and thymine, in a DNA oligonucleotide. ...

Public Awareness

Some children with cystic fibrosis in the United States call their disease 65 Roses because the words are easier to pronounce. This trademarked phrase has been popularized by the Cystic Fibrosis Foundation. The phrase came into being when it was used by a young boy who had overheard his mother, a volunteer for the Foundation, speaking of his illness. He later informed her that he knew she was working to help with "sixty-five roses"^[71] The term has since been used as a symbol by organizations and families of cystic fibrosis victims. The Cystic Fibrosis Foundation (CFF) is a non-profit organization in the United States established to provide information about cystic fibrosis and to encourage cystic fibrosis research. ...

The fight against cystic fibrosis has been a news story in France, where on April 30, 2007, the rising pop singer Grégory Lemarchal died from the illness at the age of 23. Grégory won the fourth round of Star Academy (equivalent of Pop Idol) in 2004 with a voting score of 80% at the grand final - a percentage unmatched in the history of the show. On May 4, a special television programme was broadcast on TF1 to commemorate his life, and its 10.5 million viewers were asked to donate money to help progress research into finding a cure. More than 7.5 million euros have been raised.^[72] Following his death, his family started Association Grégory Lemarchal, an advocacy organization supporting people with cystic fibrosis. is the 120th day of the year (121st in leap years) in the Gregorian calendar. ... Year 2007 (MMVII) was a common year starting on Monday of the Gregorian calendar in the 21st century. ... Grégory Lemarchal (May 13, 1983 - April 30, 2007) was a French singer and winner of the fourth series of the reality TV programme Star Academy, broadcasted on the TF1 television network. ... Location of different versions of Star Academy Star Academy is a highly successful television show format produced by Endemol, that has been broadcasted in over 50 countries. ... is the 124th day of the year (125th in leap years) in the Gregorian calendar. ... TF1 is a private French TV channel, controlled by TF1 Group, whose major share-holder is Bouygues. ... Grégory Lemarchal (May 13, 1983 - April 30, 2007) was a French singer and winner of the fourth series of the reality TV programme Star Academy, broadcasted on the TF1 television network. ...

Former Real World San Diego Castmate Frankie Abernathy died of cystic fibrosis June 9, 2007. Frankie Abernathy (December 21, 1981 – June 9, 2007) was a castmate on MTVs The Real World: San Diego. ... is the 160th day of the year (161st in leap years) in the Gregorian calendar. ... Year 2007 (MMVII) was a common year starting on Monday of the Gregorian calendar in the 21st century. ...

In January 2008, a documentary called "A Boy Called Alex" was screened on Channel Four about Alexander Stobbs, a gifted music scholar at Eton College. It showed his inspirational determination to conduct Bach's magnificat, despite interruptions due to life-threatening illness. The documentary has received excellent reviews and rais Channel 4 is a television broadcaster in the United Kingdom (see British television). ... The Kings College of Our Lady of Eton beside Windsor, commonly known as Eton College or just Eton, is a public school (privately funded and independent) for boys, founded in 1440 by King Henry VI. It is located in Eton, near Windsor in England, north of Windsor Castle, and... “Bach” redirects here. ... The Magnificat in D major, BWV 243, is one of the major vocal works of Johann Sebastian Bach. ...

Orla Tinsley, a CF sufferer, has written many articles about CF, and the plight it causes, in the Irish Times, and is a frequent campaigner for CF patient rights. Darnall ward is one of the 28 electoral wards in City of Sheffield, England. ...

The main charachter of the play 'John Lennon and Me' by Cherie Bennet has CF and resides at a pediatric hospital.

See also

• List of cystic fibrosis organizations
• List of notable people with cystic fibrosis
• Dor Yeshorim

The following organizations assist people with or do research into cystic fibrosis, a hereditary disease affecting the lungs and digestive system, causing progressive disability and for sometimes early death. ... List of notable people with cystic fibrosis Frankie Abernathy, from the San Diego Season (2004) of The Real World. ... Dor Yeshorim (Hebrew: generation [that is] straight/reliable) is an organization that offers genetic screening to members of Orthodox Jewish communities. ...

References

The New England Journal of Medicine (New Engl J Med or NEJM) is a peer-reviewed medical journal published by the Massachusetts Medical Society. ... The Cystic Fibrosis Foundation (CFF) is a non-profit organization in the United States established to provide information about cystic fibrosis and to encourage cystic fibrosis research. ... is the 116th day of the year (117th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... Year 2007 (MMVII) was a common year starting on Monday of the Gregorian calendar in the 21st century. ... is the 343rd day of the year (344th in leap years) in the Gregorian calendar. ... The Entrez logo The Entrez Global Query Cross-Database Search System allows access to databases at the National Center for Biotechnology Information (NCBI) website. ... is the 116th day of the year (117th in leap years) in the Gregorian calendar. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... Year 2007 (MMVII) was a common year starting on Monday of the Gregorian calendar in the 21st century. ... is the 59th day of the year in the Gregorian calendar. ... The Cystic Fibrosis Foundation (CFF) is a non-profit organization in the United States established to provide information about cystic fibrosis and to encourage cystic fibrosis research. ... Year 2006 (MMVI) was a common year starting on Sunday of the Gregorian calendar. ... is the 187th day of the year (188th in leap years) in the Gregorian calendar. ...

External links

• Cystic fibrosis at the Open Directory Project
• Cystic Fibrosis Worldwide
• Cystic Fibrosis Foundation
• Cystic fibrosis pictures (Univ Geneva, Switzerland)
• cf at NIH/UW GeneTests
• Rare Diseases Clinical Research Network
• Search GeneCards for genes envolved in Cystic Fibrosis

The Open Directory Project (ODP), also known as dmoz (from , its original domain name), is a multilingual open content directory of World Wide Web links owned by Netscape that is constructed and maintained by a community of volunteer editors. ... National Institutes of Health Building 50 at NIH Clinical Center - Building 10 The National Institutes of Health (NIH) is an agency of the United States Ministry of Health and Human Services and is the primary agency of the United States government responsible for biomedical and health-related research. ... The University of Washington, founded in 1861, is a public research university in Seattle, Washington. ... A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. ... A renal cell carcinoma (chromophobe type) viewed on a hematoxylin & eosin stained slide Pathologist redirects here. ... Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. ... Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by defective production of alpha 1-antitrypsin, deficient activity in the blood and lungs, and deposition of excessive amounts of abnormal A1AT protein in liver cells. ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Acatalasia (or Takaharas disease) is a peroxisomal disorder caused by a catalase deficiency. ...