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Keyword - Bartter syndrome (KW-0910)

Definition

Protein which, if defective, causes Bartter syndrome (BS). In general, Bartter syndrome refers to a group of autosomal recessive disorders characterized by often severe intravascular volume depletion due to renal salt-wasting associated with low blood pressure, hypokalemic alkalosis, hypercalciuria, and normal serum magnesium levels. Patients with Bartter syndrome are often critically ill from birth onwards, and their long-term clinical course may be complicated by nephrocalcinosis, leading to renal failure. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where only 30% of filtered salt is normally reabsorbed.

Category

Disease

Graphical

DiseaseBartter syndrome
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