Article
Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Kidney international - 1 Jan 2017
Blanchard Anne, Bockenhauer Detlef, Bolignano Davide, Calò Lorenzo A, Cosyns Etienne, Devuyst Olivier, Ellison David H, Karet Frankl Fiona E, Knoers Nine V A M, Konrad Martin, Lin Shih-Hua, Vargas-Poussou Rosa
Abstract excerpt
Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is usually detected during adolescence or adulthood, either fortuitously or in association with mild or...
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