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Bartter syndrome information


Bartter syndrome
Other namesSalt-wasting nephropathy[1]
Scheme of renal tubule and its vascular supply.
SpecialtyEndocrinology Edit this on Wikidata

Bartter syndrome (BS) is a rare inherited disease characterised by a defect in the thick ascending limb of the loop of Henle, which results in low potassium levels (hypokalemia),[2] increased blood pH (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.[citation needed]

  1. ^ "Bartter syndrome: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 29 September 2019.
  2. ^ Cite error: The named reference titleBartter Syndrome: Tubular and Cystic Kidney Disorders: Merck Manual Home Edition was invoked but never defined (see the help page).

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Bartter syndrome

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Bartter syndrome (BS) is a rare inherited disease characterised by a defect in the thick ascending limb of the loop of Henle, which results in low potassium...

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inappropriate antidiuretic hormone (SIADH) in 1957 and Bartter syndrome in 1963. Schwartz-Bartter syndrome is named after these two scientists. The first reports...

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Gitelman syndrome

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pharmacological inhibition of NCC activity). Gitelman syndrome was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases...

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Exome

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develop more targeted and personalized interventions. For example, Bartter Syndrome, also known as salt-wasting nephropathy, is a hereditary disease of...

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termini. Mutations in CLCNKB result in the autosomal recessive Type III Bartter syndrome. CLCNKA and CLCNKB are closely related (94% sequence identity), tightly...

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society. Bartter syndrome Gitelman syndrome Hypokalemic acidosis Potassium deficiency (plant disorder) Superior mesenteric artery syndrome Soar J, Perkins...

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Frederic Bartter

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Exome sequencing

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successful clinical diagnosis of a suspected Bartter syndrome patient of Turkish origin. Bartter syndrome is a renal salt-wasting disease. Exome sequencing...

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Polyhydramnios

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disease Bartter syndrome Diuretic phase of acute tubular necrosis Some diuretics Primary renal diseases Congenital adrenal hyperplasia Syndrome of inappropriate...

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Metabolic alkalosis

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blood Severely high levels of calcium in the blood Bartter syndrome and Gitelman syndromesyndromes with presentations analogous to taking diuretics characterized...

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Nephrocalcinosis

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hypercalcemia, medullary nephrocalcinosis of any cause, or in children with Bartter syndrome in whom essential tubular salt reabsorption is compromised. There are...

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Tetany

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BS

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degree Bernard–Soulier syndrome, a rare autosomal recessive coagulopathy, that is caused a deficiency of glycoprotein Ib Bartter syndrome, a rare inherited...

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Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome. This...

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sialic acid. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria...

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electron-microscopic studies on biopsies from patients with pseudo-Bartter syndrome". Cell and Tissue Research. 255 (1): 149–53. doi:10.1007/bf00229076...

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List of OMIM disorder codes

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Bart–Pumphrey syndrome; 149200; GJB2 Bartter syndrome, type 1; 601678; SLC12A1 Bartter syndrome, type 2; 241200; KCNJ1 Bartter syndrome, type 3; 607364;...

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