Article
Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings.
BMC nephrology - 26 Jan 2017
van der Merwe Pieter Du Toit, Rensburg Megan A, Haylett William L, Bardien Soraya, Davids M Razeen
Abstract excerpt
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with...
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