Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings

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• 作者：Pieter Du Toit van der Merwe ; Megan A. Rensburg ; William L. Haylett…
• 关键词：South Africa ; Gitelman syndrome ; Hypokalaemia ; Tubular disorders ; Salt craving ; Mutation ; Pseudo ; dominant inheritance
• 刊名：BMC Nephrology
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：18
• 期：1
• 全文大小：1436KB
• 刊物主题：Nephrology; Internal Medicine;
• 出版者：BioMed Central
• ISSN：1471-2369
• 卷排序：18

文摘

BackgroundGitelman 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 hypokalaemia and unusual food cravings.