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Polycystic kidney disease (PKD) is a progressive, genetic disorder of the kidneys. It occurs in humans and other organisms. PKD is characterized by the presence of multiple cysts (hence, "polycystic") in both kidneys. The disease can also damage the liver, pancreas, and rarely, the heart and brain. The two major forms of polycystic kidney disease are distinguished by their patterns of inheritance. Image File history File links No higher resolution available. ...
The International Statistical Classification of Diseases and Related Health Problems (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 codes are used with International Statistical Classification of Diseases and Related Health Problems. ...
// Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous...
The International Statistical Classification of Diseases and Related Health Problems (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. ...
A genetic disorder, or genetic disease, is a condition caused by abnormal expression of one or more genes resulting in a clinical phenotype. ...
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Trinomial name Homo sapiens sapiens Linnaeus, 1758 Humans, or human beings, are bipedal primates belonging to the mammalian species Homo sapiens (Latin: wise man or knowing man) under the family Hominidae (the great apes). ...
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A cyst is a closed sac having a distinct membrane and developing abnormally in a cavity or structure of the body. ...
It has been suggested that Renal anomalies and Renal plasma threshold be merged into this article or section. ...
The liver is an organ in some animals, including vertebrates (and therefore humans). ...
The pancreas is an organ in the digestive and endocrine system that serves two major functions: exocrine (producing pancreatic juice containing digestive enzymes) and endocrine (producing several important hormones, including insulin). ...
The heart and lungs, from an older edition of Grays Anatomy. ...
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Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset disorder characterized by progressive cyst development and bilaterally enlarged kidneys with multiple cysts. Kidney manifestations in this disorder include renal function abnormalities, hypertension, renal pain, and renal insufficiency. Approximately 50% of patients with ADPKD have end-stage renal disease (ESRD) by the age of 60. ADPKD is, however, a systemic disease with cysts in other organs such as the liver (which may lead to cirrhosis), seminal vesicles, pancreas, and arachnoid mater and non-cystic abnormalities such as intracranial aneurysms and dolichoectasias, dilatation of the aortic root and dissection of the thoracic aorta, mitral valve prolapse, and abdominal wall hernias. It has been suggested that this article or section be merged into Dominance relationship. ...
For other forms of hypertension, see Hypertension (disambiguation). ...
The liver is an organ in some animals, including vertebrates (and therefore humans). ...
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. ...
Categories: Stub | Andrology | Exocrine system | Reproductive system ...
The Arachnoid mater is one of the three layers of the meninges, interposed between the dura mater and the pia mater and separated from the pia mater by the subarachnoid space. ...
An aneurysm (or aneurism) (from Gr. ...
The term dolichoectasia means elongation and distension. ...
AORTA can also mean always-on real-time access, referring to WAN computer networks. ...
The largest artery in the human body, the aorta originates from the left ventricle of the heart and brings oxygenated blood to all parts of the body in the systemic circulation. ...
Mitral valve prolapse (MVP) is a heart valve condition marked by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. ...
Initial simian and human symptoms are hypertension, fatigue, and mild to severe back or flank pain and urinary tract infections. The disease often leads to chronic renal failure and may result in total loss of kidney function, known as end stage renal disease (ESRD), which requires some form of renal replacement therapy (e.g. dialysis). The term symptom (from the Greek syn = con/plus and pipto = fall, together meaning co-exist) has two similar meanings in the context of physical and mental health: Strictly, a symptom is a sensation or change in health function experienced by a patient. ...
For other forms of hypertension, see Hypertension (disambiguation). ...
The word fatigue is used in everyday living to describe a range of afflictions, varying from a general state of lethargy to a specific work induced burning sensation within muscle. ...
For other uses, see Pain (disambiguation). ...
A urinary tract infection (UTI) is a bacterial infection that affects any part of the urinary tract. ...
Chronic renal failure - Wikipedia /**/ @import /skins/monobook/IE50Fixes. ...
Renal replacement therapy is a term used to encompass treatments for renal disease. ...
In medicine, dialysis is a type of renal replacement therapy which is used to provide an artificial replacement for lost kidney function due to renal failure. ...
Autosomal recessive polycystic kidney disease (ARPKD) is much rarer than ADPKD and is often lethal. The signs and symptoms of the condition are usually apparent at birth or in early infancy. In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...
Genetics
The disease exists both in an autosomal recessive and an autosomal dominant form. In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...
It has been suggested that this article or section be merged into Dominance relationship. ...
Autosomal dominant form The autosomal dominant form, called ADPKD (autosomal dominant PKD or "Adult-onset PKD") is much more common but less severe. In 85% of patients, ADPKD is caused by mutations in the gene PKD1 (chromosomal locus 16p13.3-p13.1); in 15% of patients mutations in PKD2 (chromosomal locus 4q21-q23) are causative. A third locus PKD3 is the cause of a very small percentage of cases. Image File history File links Autodominant2. ...
Image File history File links Autodominant2. ...
It has been suggested that this article or section be merged into Dominance relationship. ...
It has been suggested that mutant be merged into this article or section. ...
For other meanings of this term, see gene (disambiguation). ...
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. ...
Autosomal recessive form The recessive form, called ARPKD (autosomal recessive polycystic kidney disease) is the less common variant, mutations in the PKHD1 (chromosomal locus 6p12.2) cause ARPKD. Wikipedia does not yet have an article with this exact name. ...
Wikipedia does not yet have an article with this exact name. ...
It has been suggested that this article or section be merged into Dominance relationship. ...
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. ...
Other types A small number of families with polycystic kidney disease do not have apparent mutations in any of the three known genes. An unidentified gene or genes may also be responsible for this disease. In this case, the disease is designated "PKD3".
Epidemiology Polycystic kidney disease is the most common life-threatening genetic disease, affecting over 12.5 million people worldwide.[citation needed] Autosomal dominant polycystic kidney disease affects about 1 in 500 people, while the autosomal recessive type is estimated to occur in 1 in 20,000-40,000 people.[citation needed]
Pathophysiology Recent studies in fundamental cell biology of cilia/flagella using experimental model organisms like the green algae Chlamydomonas, the round worm Caenorhabditis elegans and the mouse Mus musculus have shed light on how PKD develops in patients. All cilia and flagella are constructed and maintained, including localizing of proteins inserted into ciliary and flagellar membranes, by the process of intraflagellar transport. Environmental sensing and cellular signaling pathways initiated from proteins inserted into ciliary/flagellar membranes are thought to be critical for normal renal cell development and functioning. Membrane proteins which function in developmental and physiological environmental sensing and intracellular signalling are sorted to and localized to the cilia in renal epithelial cells by intraflagellar transport. These epithelial cells line the lumen of the urinary collecting ducts and sense the flow of urine. Failure in flow-sensing signaling results in programmed cell death or apoptosis of these renal epithelial cells producing the characteristc multiple cysts of PKD. PKD may result from mutations of signaling and environmantal sensing proteins, or failure in intraflagellar transport. Two PKD genes, PKD1 and PKD2, encode membrane proteins which localize to a non-motile cilium on the renal tube cell. Polycystin-2 encoded by PKD2 gene is a calcium channel which allows extracellular calcium ions to enter the cell. Polycystin-1, encoded by PKD1 gene, is thought to be associated with polycystin-2 protein and regulate its channel activity. The calcium ions are important cellular messengers which, in turn, trigger complicated biochemical pathways which lead to quiescence and differentiation. Malfunctions of polycystin-1 or polycystin-2 proteins, defects in the assembly of the cilium on the renal tube cell, failures in targeting these two proteins to the cilium, and deregulations of calcium signaling all likely cause the occurrence of PKD. cross-section of two cilia, showing 9+2 structure A cilium (plural cilia) is a fine projection from a eukaryotic cell that constantly beats in one direction. ...
A flagellum (plural, flagella) is a whip-like organelle that many unicellular organisms, and some multicellular ones, use to move about. ...
A model organism is one that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the model organism will provide insight into the workings of other organisms. ...
Species See text. ...
Binomial name Caenorhabditis elegans Maupas, 1900 Caenorhabditis elegans (IPA: ) is a free-living nematode (roundworm), about 1 mm in length, which lives in temperate soil environments. ...
Binomial name Mus musculus Linnaeus, 1758 Mus musculus is the common house mouse. ...
cross-section of two cilia, showing 9+2 structure A cilium (plural cilia) is a fine projection from a eukaryotic cell that constantly beats in one direction. ...
A flagellum (plural, flagella) is a whip-like organelle that many unicellular organisms, and some multicellular ones, use to move about. ...
Intraflagellar transport (IFT) refers to the cellular process essential for the formation and maintainance of eukaryotic cilia and flagella. ...
Intraflagellar transport (IFT) refers to the cellular process essential for the formation and maintainance of eukaryotic cilia and flagella. ...
A cell undergoing apoptosis. ...
Intraflagellar transport (IFT) refers to the cellular process essential for the formation and maintainance of eukaryotic cilia and flagella. ...
PKD and the "two hit" hypothesis:
The two hit hypothesis (aka Knudson hypothesis ) is often used to explain the manifestation of polycystic kidney disease later in life even though the mutation is present at birth. This term is borrowed from cancer research stating that both copies of the gene present in the genome have to be "silenced" before cancer manifests itself (in Knudson's case the silenced gene was Rb1) . In ADPKD the original "hit" is congenital (in either the PKD1 or PKD2 genes) and the subsequent "hit" occurs later in life as the cells grow and divide. The two hit hypothesis as it related to PKD was originally purposed by Reeders in 1992. Support for this hypothesis comes from the fact that ARPKD patients develop disease at birth, and somatic mutations in the "normal" copy of PKD1 or PKD2 have been found in cyst-lining epithelia The Knudson hypothesis is the hypothesis that cancer is the result of accumulated mutations to a cells DNA. It was first proposed by Carl O. Nordling in 1953, [1][2] and later formulated by Alfred G. Knudson in 1971. ...
The term somatic refers to the body, as distinct from some other entity, such as the mind. ...
In zootomy, epithelium is a tissue composed of a layer of cells. ...
Diagnosis A definite diagnosis of ADPKD relies on imaging or molecular genetic testing. The sensitivity of testing is nearly 100% for all patients with ADPKD who are age 30 years or older and for younger patients with PKD1 mutations; these criteria are only 67% sensitive for patients with PKD2 mutations who are younger than age 30 years. Large echogenic kidneys without distinct macroscopic cysts in an infant/child at 50% risk for ADPKD are diagnostic. In the absence of a family history of ADPKD, the presence of bilateral renal enlargement and cysts, with or without the presence of hepatic cysts, and the absence of other manifestations suggestive of a different renal cystic disease provide presumptive, but not definite, evidence for the diagnosis. Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ...
The liver is an organ in vertebrates including humans. ...
Molecular genetic testing by linkage analysis or direct mutation screening is available clinically; however, genetic heterogeneity is a significant complication to molecular genetic testing. Sometimes a relatively large number of affected family members need to be tested in order to establish which one of the two possible genes is responsible within each family. The large size and complexity of PKD1 and PKD2 genes, as well as marked allelic heterogeneity, present obstacles to molecular testing by direct DNA analysis. In the research setting, mutation detection rates of 50-75% have been obtained for PKD1 and ~75% for PKD2. Clinical testing of the PKD1 and PKD2 genes by direct sequence analysis is now available, with a detection rate for disease-causing mutations of 50-70%. Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ...
Genetic linkage occurs when particular alleles are inherited together. ...
For other meanings of this term, see gene (disambiguation). ...
It has been suggested that mutant be merged into this article or section. ...
The term sequence analysis in biology implies subjecting a DNA or peptide sequence to sequence alignment, sequence databases, repeated sequence searches, or other bioinformatics methods on a computer. ...
Genetic counseling may be helpful for families at risk for polycystic kidney disease. Genetic counseling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning in order to prevent, avoid or...
Treatment Although a cure for PKD is not available, treatment can ease the symptoms and prolong life. - Pain: Over-the-counter pain medications, such as aspirin or paracetamol can relieve pain. For most but not all cases of severe pain, surgery to shrink cysts can relieve pain in the back and flanks. However, surgery provides only temporary relief and usually does not slow the disease's progression toward kidney failure.
- Urinary tract infections: Patients with PKD tend to have frequent urinary tract infections, which can be treated with antibiotics. Early treatment is important, because infection can spread from the urinary tract to the cysts in the kidneys. Cyst infections are difficult to treat because many antibiotics do not penetrate into the cysts. However, some antibiotics are effective.
- High blood pressure: Keeping blood pressure under control can slow the effects of PKD. Lifestyle changes and various medications can lower high blood pressure.
Aspirin or acetylsalicylic acid (acetosal) is a drug in the family of salicylates, often used as an analgesic (against minor pains and aches), antipyretic (against fever), and anti-inflammatory. ...
Paracetamol (INN) (IPA: ) or acetaminophen (USAN), is a common analgesic and antipyretic drug that is used for the relief of fever, headaches, and other minor aches and pains. ...
Renal failure is when the kidneys fail to function properly. ...
A urinary tract infection (UTI) is a bacterial infection that affects any part of the urinary tract. ...
Staphylococcus aureus - Antibiotics test plate. ...
Arterial hypertension, or high blood pressure is a medical condition where the blood pressure is chronically elevated. ...
Chronic renal failure (CRF) is a slowly progressive loss of renal function over a period of months or years and defined as an abnormally low glomerular filtration rate, which usually determined indirectly by the creatinine level in blood serum. ...
In medicine, dialysis is a type of renal replacement therapy which is used to provide an artificial replacement for lost kidney function due to renal failure. ...
An organ transplant is the transplantation of an organ (or part of one) from one body to another, for the purpose of replacing the recipients damaged or failing organ with a working one from the donor. ...
In Cats Polycystic Kidney Disease (PKD) is also prevalent in Persian, Himalayan, and Exotic Cats. The Persian cat is one of the oldest breeds of cat. ...
There are 3 possible genotypes for PKD: 1) N/N (2 copies of the normal allele) 2) N/P Heterozygote (1 normal copy and 1 copy of the PKD mutation), or 3) P/P (2 copies of the PKD mutation)
PKD DNA testing is available to identify these genotypes to help cat breeders make more informed decisions about mating patterns.
References 1. Nauli and Zhou BioEssays 26:844–856, 2004.
2. Grantham J.J et al The New England Journal of Medicine 354:2122-30, 2006. The New England Journal of Medicine (NEJM) is a peer-reviewed medical journal published by the Massachusetts Medical Society. ...
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