NationMaster - Encyclopedia: Bartter syndrome

Bartter syndrome is a rare genetic disease characterized by low potassium levels (hypokalemia), decreased acidity of blood (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelman syndrome, is milder than both subtypes of Bartter syndrome. Image File history File links Broom_icon. ... Image File history File links Information. ... 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. ... 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. ... Hypokalemia is a potentially fatal condition in which the body fails to retain sufficient potassium to maintain health. ... Alkalosis refers to a condition reducing hydrogen ion concentration of arterial blood plasma. ... This article needs to be wikified. ...

Features

In 90% of cases, neonatal Bartter syndrome is seen between 24 and 30 weeks of gestation with excess amnionic fluid (polyhydramnios). After birth, the infant is seen to urinate and drink excessively (polyuria, and polydipsia, respectively). Life-threatening dehydration may result if the infant does not receive adequate fluids. About 85% of infants dispose of excess amounts of calcium in the urine (hypercalciuria) and kidneys (nephrocalcinosis), which may lead to kidney stones. In rare occasions, the infant may progress to renal failure. A drawing of the amniotic sac from Grays Anatomy. ... Polyuria is the passage of a large volume of urine in a given period. ... Polydipsia is a medical condition in which the patient ingests abnormally large amounts of fluids by mouth. ... Hypercalcaemia (or Hypercalcemia) is an elevated calcium level in the blood. ... Nephrocalcinosis, also known as Albrights calcinosis after Fuller Albright, is a term originally used to describe deposition of calcium salts in the renal parenchyma due to hyperparathyroidism. ...

Patients with classic Bartter syndrome may have symptoms in the first two years of life, but they are usually diagnosed at school age or later. Like infants with the neonatal subtype, patients with classic Bartter syndrome also have polyuria, polydipsia, and a tendency to dehydration, but normal or just slightly increased urinary calcium excretion without the tendency to develop kidney stones. These patients also have vomiting and growth retardation. Kidney function is also normal if the disease is treated,^[1] but occasionally patients proceed to end-stage renal failure.

Diagnosis

The clinical findings characteristic of Bartter syndrome are hypokalemia, metabolic alkalosis, and normal to low blood pressure. These findings may also be caused by:

Patients with Bartter syndrome may also have elevated renin and aldosterone levels.^[2] A diuretic (colloquially called a water pill) is any drug or herb that elevates the rate of bodily urine excretion (diuresis). ... Magnesium deficiency refers to an absolute lack of magnesium, the result of numerous conditions. ... Renin, also known as angiotensinogenase, is a circulating enzyme (EC 3. ... Aldosterone is a steroid hormone (mineralocorticoid family) produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland to regulate sodium and potassium balance in the blood. ...

Pathophysiology

Bartter syndrome is caused by mutations of genes encoding proteins that transport ions across renal cells in the thick ascending limb of the nephron.^[1] Bartter and Gitelman syndromes can be divided into different subtypes based on the genes involved: neonatal Bartter's syndrome is caused by mutations of NKCC2 or ROMK, classic Bartter's syndrome by mutations of ClC-Kb, Bartter's syndrome associated with sensorineural deafness is due to mutations of BSND, Gitelman's syndrome to mutations of NCCT and Bartter's syndrome associated with autosomal dominant hypocalcemia is linked to mutations of CASR.^[3] The thick ascending limb of loop of Henle (or distal straight tubule) can be divided into two parts: that in the renal medulla, and that in the renal cortex. ... The Na-K-2Cl symporter is an ion pump carrier protein that is inhibited by loop diuretics. ... ROMK is an acronym for the Renal Outer Medullary Potassium channel. ...

Treatment

While patients should be encouraged to include liberal amounts of sodium and potassium in their diet, potassium supplements are usually required, and spironolactone is also used to reduce potassium loss. Nonsteroidal antiinflammatory drugs (NSAIDs) can be used as well, and are particularly helpful in patients with neonatal Bartter's syndrome. Angiotensin-converting enzyme (ACE) inhibitors can also be used. Spironolactone (marketed under the trade names Aldactone, Novo-Spiroton, Spiractin, Spirotone, or Berlactone) is a synthetic steroid which is commonly used as a diuretic or as an antiandrogen. ... Non-steroidal anti-inflammatory drugs, usually abbreviated to NSAIDs, are drugs with analgesic, antipyretic and anti-inflammatory effects - they reduce pain, fever and inflammation. ... Captopril, the first ACE inhibitor ACE inhibitors, or inhibitors of Angiotensin-Converting Enzyme, are a group of pharmaceuticals that are used primarily in treatment of hypertension and congestive heart failure, in most cases as the drugs of first choice. ...

Prognosis

The limited prognostic information available suggests that early diagnosis and appropriate treatment of infants and young children with Classic Bartter Syndrome may improve growth and perhaps neurointellectual development. On the other hand, sustained hypokalemia and hyperreninemia can cause progressive tubulointerstitial nephritis, resulting in end-stage-renal disease (Kidney failure). With early treatment of the electrolyte imbalances the prognosis for patients with Classic Bartter Syndrome is good. M

Epidemiology

History

Bartter syndrome was first described in an article by Bartter et al in 1962.^[2]

Related conditions

References

External links

Categories: Cleanup from February 2007 | All pages needing cleanup | Pages needing expert attention | Articles to be expanded since February 2007 | All articles to be expanded | Nephrology | Pediatrics | Genetic disorders | Channelopathy Who Named It is a Norwegian database of several thousand eponymous medical signs and the doctors associated with their identification. ... Endocrinology is a branch of medicine dealing with disorders of the endocrine system and its specific secretions called hormones. ... Pathology (from Greek pathos, feeling, pain, suffering; and logos, study of; see also -ology) is the study of the processes underlying disease and other forms of illness, harmful abnormality, or dysfunction. ... Among the hundreds of endocrine diseases (or endocrinological diseases) are: Adrenal disorders: Adrenal insufficiency Addisons disease Congenital adrenal hyperplasia (adrenogenital syndrome) Mineralocorticoid deficiency Conns syndrome Cushings syndrome Pheochromocytoma Adrenocortical carcinoma Glucose homeostasis disorders: Diabetes mellitus Hypoglycemia Idiopathic hypoglycemia Insulinoma Metabolic bone disease: Osteoporosis Osteitis deformans (Pagets... This article or section does not cite its references or sources. ... This article does not cite any references or sources. ... Cretinism (most likely from the Latin ChristiÄnum, Christian) is a condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones (hypothyroidism). ... Congenital hypothyroidism (CHT) is a condition of thyroid hormone deficiency present at birth. ... A goitre (or goiter) (Latin struma), also called a bronchocele, is a swelling in the neck (just below Adams apple or larynx) due to an enlarged thyroid gland. ... Hyperthyroidism (or overactive thyroid gland) is the clinical syndrome caused by an excess of circulating free thyroxine (T4) or free triiodothyronine (T3), or both. ... Graves disease is a thyroid disorder characterized by goiter, exophthalmos, orange-peel skin, and hyperthyroidism. ... Toxic multinodular goitre (also known as toxic nodular goitre, toxic nodular struma) is a form of hyperthyroidism - where there is excess production of thyroid hormones. ... Look up teratoma in Wiktionary, the free dictionary. ... A teratoma is a type of tumor that derives from pluripotent germ cells. ... de Quervains thyroiditis, is also known as subacute granulomatous thyroiditis or subacute thyroiditis; usually occurs in women between 30 and 50 years of age. ... This disease was discovered by Mr. ... Riedels thyroiditis, also called Riedels struma is a chronic form of thyroiditis. ... Euthyroid sick syndrome is a thyroid hormone disorder where the levels of T3 and/or T4 are at unusual levels, but the thyroid gland does not appear to be dysfunctional. ... The pancreas is a gland organ in the digestive and endocrine systems of vertebrates[2]. It is both exocrine (secreting pancreatic juice containing digestive enzymes) and endocrine (producing several important hormones, including insulin, glucagon, and somatostatin). ... For the disease characterized by excretion of large amounts of very dilute urine, see diabetes insipidus. ... Diabetes mellitus type 1 (Type 1 diabetes, Type I diabetes, T1D, IDDM) is a form of diabetes mellitus. ... See diabetes mellitus for further general information on diabetes. ... Diabetic coma is a medical emergency in which a person with diabetes mellitus is comatose (unconscious) because of one of three acute complications of diabetes: Severe diabetic hypoglycemia Advanced diabetic ketoacidosis advanced enough to result in unconsciousness from a combination of severe hyperglycemia, dehydration and shock, and exhaustion Hyperosmolar nonketotic... Angiopathy is a disease of the blood vessels (arteries, veins, and capillaries) that occurs when someone has diabetes for a long time. ... Diabetic ketoacidosis (DKA) is a life-threatening complication in patients with untreated diabetes mellitus (chronic high blood sugar or hyperglycemia). ... Photomicrography of nodular glomerulosclerosis in Kimmelstein-Wilson syndrome. ... Diabetic neuropathies are neuropathic disorders that are associated with diabetes mellitus. ... Diabetic retinopathy is retinopathy (damage to the retina) caused by complications of diabetes mellitus, which could eventually lead to blindness. ... Hypoglycemia (hypoglycÃ¦mia in the UK) is a medical term referring to a pathologic state produced by a lower than normal level of sugar (glucose) in the blood. ... Hyperinsulism or hyperinsulinemia is a condition in which the bodys cells do not respond properly to insulin, the hormone that functions to control blood sugar levels. ... Zollinger-Ellison syndrome is a disorder where increased levels of the hormone gastrin are produced, causing the stomach to produce excess hydrochloric acid. ... The four human parathyroid glands are adjacent to the thyroid. ... In medicine (endocrinology), hypoparathyroidism is decreased function of the parathyroid glands, leading to decreased levels of parathyroid hormone (PTH). ... Pseudohypoparathyroidism is a condition that mimics hypoparathyroidism, but is due to a resistance to parathyroid hormone, rather than a lack of the hormone (akin to the distinction between Type 1 diabetes and Type 2 diabetes. ... Hyperparathyroidism is overactivity of the parathyroid glands resulting in excess production of parathyroid hormone (PTH). ... Primary hyperparathyroidism causes hypercalcemia (elevated blood calcium levels) through the excessive secretion of parathyroid hormone (PTH), usually by an adenoma (benign tumors) of the parathyroid glands. ... Secondary hyperparathyroidism refers to the excessive secretion of parathyroid hormone (PTH) by the parathyroid glands in response to hypocalcemia (low blood calcium levels) and associated hypertrophy of the glands. ... Tertiary hyperparathyroidism is a state of excessive secretion of parathyroid hormone (PTH) after a long period of secondary hyperparathyroidism and resulting in hypercalcemia. ... The pituitary gland, or hypophysis, is an endocrine gland about the size of a pea that sits in a small, bony cavity (pituitary fossa) covered by a dural fold (sellar diaphragm) at the base of the brain. ... Acromegaly (from Greek akros high and megas large - extremities enlargement) is a hormonal disorder that results when the pituitary gland produces excess growth hormone (hGH). ... Prolactin is a hormone secreted by lactotropes in the adenohypophysis (anterior pituitary gland) which is made up of 199 amino acids with a molecular weight of about 23,000 daltons. ... The syndrome of inappropriate antidiuretic hormone (SIADH) is a condition commonly found in the hospital population, especially in patients being hospitalized for central nervous system (CNS) injury. ... Hypopituitarism is a medical term describing deficiency (hypo) of one or more hormones of the pituitary gland. ... Sheehan syndrome, also known as postpartum hypopituitarism or postpartum pituitary necrosis, is hypopituitarism (decreased functioning of the pituitary gland), caused by necrosis due to blood loss and hypovolemic shock during and after childbirth. ... Kallmann syndrome is an example of hypogonadism (decreased functioning of the sex hormone-producing glands) caused by a deficiency of gonadotropin-releasing hormone (GnRH), which is created by the hypothalamus. ... Simmonds disease (also Simmonds syndrome) refers to panhypopituitarism caused by the destruction of the pituitary gland due to infiltrative processes (e. ... Growth hormone deficiency is the medical condition of inadequate production of growth hormone (GH) and its effects on children and adults. ... Diabetes insipidus (DI) is a disease characterized by excretion of large amounts of severely diluted urine, which cannot be reduced when fluid intake is reduced. ... Hypothalamic-pituitary dysfunction is a term to describe a nonorganic relative inactivity of the gonadotropin-releasing hormone (GnRH) system of the hypothalamus and its dependent pituitary gonadotrophs that normally produce follicle stimulating hormone, FSH, and luteinizing hormone, LH. The condition occurs during the reproductive years and leads to hypogonadotropic hypogonadism. ... In mammals, the adrenal glands (also known as suprarenal glands) are the triangle-shaped endocrine glands that sit on top of the kidneys; their name indicates that position (ad-, near or at + -renes, kidneys). They are chiefly responsible for regulating the stress response through the synthesis of corticosteroids and catecholamines... Wikipedia does not have an article with this exact name. ... Pseudo-Cushings syndrome is a medical condition in which patients display the signs, symptoms, and abnormal hormone levels seen in Cushings syndrome. ... Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. ... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, in all its forms, accounts for about 95% of diagnosed cases of congenital adrenal hyperplasia, and CAH in most contexts refers to 21-hydroxylase deficiency. ... Conns syndrome is overproduction of the mineralocorticoid hormone aldosterone by the adrenal glands. ... In medicine, adrenal insufficiency (or hypocortisolism) is the inability of the adrenal gland to produce adequate amounts of cortisol in response to stress. ... Addisons disease (also known as chronic adrenal insufficiency, or hypocortisolism) is a rare endocrine disorder in which the body produces insufficient amounts of adrenal steroid hormones (glucocorticoids and often mineralocorticoids). ... In medicine (endocrinology), hypoaldosteronism refers to decreased levels of the hormone aldosterone. ... The gonad is the organ that makes gametes. ... Polycystic ovary syndrome (PCOS, also known clinically as Stein-Leventhal syndrome), is an endocrine disorder that affects 4%â€“7% of women. ... It has been suggested that this article or section be merged with Guevedoche. ... Hypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads (ovaries or testes). ... Puberty is described as delayed when a boy or girl has passed the usual age of onset of puberty with no physical or hormonal signs that it is beginning. ... Precocious puberty means early puberty. ... In medicine, autoimmune polyendocrine syndromes are a heterogenous group of rare diseases characterised by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected. ... Carcinoid syndrome refers to the array of symptoms that occur secondary to carcinoid tumors. ... Laron syndrome is a disorder characterized by an insensitivity to growth hormone, caused by a variant of the growth hormone receptor. ... Multiple endocrine neoplasia (MEN) (or multiple endocrine adenomas, or multiple endocrine adenomatosis -- MEA) consists of three syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. ... Psychogenic dwarfism, Psychosocial dwarfism or Stress dwarfism is a growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress. ... Androgen insensitivity syndrome (AIS, or Androgen resistance syndrome) is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. ... The term Progeria narrowly refers to Hutchinson-Gilford Progeria syndrome, but the term is also used more generally to describe any of the so-called accelerated aging diseases. The word progeria is derived from the Greek for prematurely old. Because the accelerated aging diseases display different aspects of aging, but...

Contents

Features GA_googleFillSlot("encyclopedia_square");