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09-SEPTEMBER-2008 02:07:44 - Bartter syndrome Bartter syndrome Classification and external resources Scheme of renal tubule and its vascular supply. ICD-10 E26.8 ICD-9 255.13 OMIM 601678 241200 607364 602522 DiseasesDB 1254 eMedicine med/213 ped/210 MeSH D001477 Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is 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. Contents 1 Features 2 Diagnosis 3 Pathophysiology 4 Treatment 5 Prognosis 6 History 7 Related conditions 8 References 9 External links Features In 90% of cases, neonatal Bartter syndrome is seen between 24 and 30 weeks of gestation with excess amniotic 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. 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. Bartter's syndrome consists of hypokalaemia, alkalosis, normal blood pressures, and elevated plasma renin and aldosterone. Numerous causes of this syndrome probably exist. Diagnostic pointers include high urinary potassium and chloride despite low serum values, increased plasma renin, hyperplasia of the juxtaglomerular apparatus on renal biopsy, and careful exclusion of diuretic abuse. Excess production of renal prostaglandins is often found. Magnesium wasting may also occur. Diagnosis People suffering from Bartter syndrome present symptoms which are identical to those of patients who are on loop diuretics like furosemide. The clinical findings characteristic of Bartter syndrome are hypokalemia, metabolic alkalosis, and normal to low blood pressure. These findings may also be caused by: Chronic vomiting: These patients will also have low urine chloride levels Abuse of diuretic medications water pills: The physician must screen urine for multiple diuretics before diagnosis is made. Magnesium deficiency: These patients will also have low serum and urine magnesium Patients with Bartter syndrome may also have elevated renin and aldosterone levels.2 Prenatal Bartter syndrome can be associated with polyhydramnios.3 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:4 Name Bartter type Associated gene mutations Defect neonatal Bartter's syndrome type 1 NKCC2 Na-K-2Cl symporter neonatal Bartter's syndrome type 2 ROMK thick ascending limb K+ channel classic Bartter's syndrome type 3 CLCNKB Cl- channel Bartter's syndrome with sensorineural deafness type 4 BSND5 Cl- channel Bartter's syndrome associated with autosomal dominant hypocalcemia type 5 CASR6 calcium-sensing receptor Gitelman's syndrome - SLC12A3 NCCT Sodium-chloride symporter Treatment While patients should be encouraged to include liberal amounts of sodiumcitation needed and potassium in their diet, potassium supplements are usually required, and spironolactone is also used to reduce potassium loss.7 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. Prognosis Please help improve this section by expanding it. Further information might be found on the talk page or at requests for expansion. February 2007 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. History The condition is named after Dr. Frederic Bartter, who, along with Dr. Pacita Pronove, first described it in 1960 and in more patients in 1962.289 Related conditions Bartter and Gitelman syndromes are both characterized by hypokalemia, normal to low blood pressure, and hypochloremic metabolic alkalosis.10 References ^ a b Rodriguez-Soriano J 1998. Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol 12 4: 315-27. doi:10.1007/s004670050461. PMID 9655365. ^ a b Bartter FC, Pronove P, Gill JR Jr, MacCardle RC 1962. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 33: 811-28. doi:10.1016/0002-93436290214-0. PMID 13969763. Reproduced in Bartter FC, Pronove P, Gill JR, MacCardle RC 1998. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. 1962. J. Am. Soc. Nephrol. 9 3: 516-28. PMID 9513916. ^ Dane B, Yayla M, Dane C, Cetin A 2007. Prenatal diagnosis of Bartter syndrome with biochemical examination of amniotic fluid: case report. Fetal. Diagn. Ther. 22 3: 206-8. doi:10.1159/000098719. PMID 17228161. ^ Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D 2004. Bartter's and Gitelman's syndromes: from gene to clinic. Nephron Physiol 96 3: p65-78. doi:10.1159/000076752. PMID 15056980. ^ Zaffanello M, Taranta A, Palma A, Bettinelli A, Marseglia GL, Emma F 2006. Type IV Bartter syndrome: report of two new cases. Pediatr. Nephrol. 21 6: 766-70. doi:10.1007/s00467-006-0090-x. PMID 16583241. ^ Vezzoli G, Arcidiacono T, Paloschi V, et al 2006. Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome dead link. J. Nephrol. 19 4: 525-8. PMID 17048213. ^ Bartter Syndrome: Tubular and Cystic Kidney Disorders: Merck Manual Home ion. Retrieved on 2007-12-31. ^ Proesmans W 2006. Threading through the mizmaze of Bartter syndrome. Pediatr. Nephrol. 21 7: 896-902. doi:10.1007/s00467-006-0113-7. PMID 16773399. ^ synd/2328 at Who Named It ^ Gitelman HJ, Graham JB, Welt LG 1966. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 221-35. PMID 5929460. External links The Bartter Site v d e Endocrine pathology: endocrine diseases E00-35, 240-259 Pancreas/ glucose metabolism Diabetes mellitus types: type 1, type 2, MODY, complications: coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy Hypoglycemia - Hyperinsulinism - Zollinger-Ellison syndrome - insulin receptor Rabson-Mendenhall syndrome - Insulin resistance Hypothalamic/ pituitary axes Pituitary Hyperpituitarism Acromegaly, Hyperprolactinaemia, SIADH Hypopituitarism Sheehan's syndrome, Kallmann syndrome, Growth hormone deficiency, Diabetes insipidus Adiposogenital dystrophy - Empty sella syndrome - Pituitary apoplexy - ACTH deficiency Thyroid Hypothyroidism Iodine deficiency, Cretinism, Congenital hypothyroidism, Goitre, Myxedema Hyperthyroidism Graves disease, Toxic multinodular goitre, Teratoma with thyroid tissue or Struma ovarii Thyroiditis De Quervain's thyroiditis, Hashimoto's thyroiditis, Riedel's thyroiditis Euthyroid sick syndrome - Thyroid hormone resistance - Thyroid nodule Parathyroid Hypoparathyroidism Pseudohypoparathyroidism - Hyperparathyroidism Primary, Secondary, Tertiary Adrenal Adrenocortical hyperfunction: Cushing's syndrome Nelson's syndrome, Pseudo-Cushing's syndrome - Hyperaldosteronism Conn syndrome, Bartter syndrome CAH Lipoid, 3β, 11β, 17α, 21α Adrenal insufficiency Addison's disease, Waterhouse-Friderichsen syndrome - Hypoaldosteronism Gonads ovarian Polycystic ovary syndrome, Premature ovarian failure testicular 5-alpha-reductase deficiency, 17-beta-hydroxysteroid dehydrogenase deficiency general Hypogonadism, Delayed puberty, Precocious puberty Other Androgen insensitivity syndrome - Autoimmune polyendocrine syndrome - Carcinoid syndrome - Gigantism - Short stature Laron syndrome, Psychogenic dwarfism - Multiple endocrine neoplasia 1, 2 - Progeria - Woodhouse-Sakati syndrome - thymus Abscess of thymus, Thymus hyperplasia see also congenital, neoplasia Retrieved from http://en..org/wiki/Bartter_syndrome Categories: Nephrology | Pediatrics | Genetic disorders | ChannelopathyHidden categories: All articles with dead external links | Articles with dead external links since May 2008 | All articles with statements | Articles with statements since January 2008 | Articles to be expanded since February 2007 | All articles to be expanded Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages Deutsch Italiano Magyar 日本語 Polski This page was last modified on 24 August 2008, at 16:07
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