Article
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
American journal of physiology. Renal physiology - 15 Jun 2015
Andrini Olga, Keck Mathilde, Briones Rodolfo, Lourdel Stéphane, Vargas-Poussou Rosa, Teulon Jacques
Abstract excerpt
The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one of the four variants of Bartter syndrome in the genetically based nomenclature. All forms of Bartter syndrome are characterized by hypokalemia, metabolic alkalosis, and secondary hyperaldosteronism, but Bartter syndrome type 3 has the most heterogeneous presentation, extending from severe to very...
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