Article
Bartter and Gitelman syndromes: Questions of class.
Pediatric nephrology (Berlin, Germany) - 1 Oct 2020
Besouw Martine T P, Kleta Robert, Bockenhauer Detlef
Abstract excerpt
Bartter and Gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. They are caused by mutations in at least 7 genes involved in the reabsorption of sodium in the thick ascending limb (TAL) of the loop of Henle and/or the distal convoluted tubule (DCT). Different subtypes can be distinguished and various classifications have been proposed based on...
Topics
- Bartter Syndrome
- Chloride Channels
- Gitelman Syndrome
- Humans
- Kidney Tubules, Distal
- Loop of Henle
- Mutation
- Renal Reabsorption
- Sodium