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Article

Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome.

European journal of endocrinology - 1 Oct 2011

Balavoine A S, Bataille P, Vanhille P, Azar R, Noël C, Asseman P, Soudan B, Wémeau J L, Vantyghem M C

Abstract excerpt

INTRODUCTION: Gitelman syndrome (GS) is a tubulopathy caused by SLC12A3 gene mutations, which lead to hypokalaemic alkalosis, secondary hyperaldosteronism, hypomagnesaemia and hypocalciuria. AIM: The aim of this study was to assess the prevalence of SLC12A3 gene mutations in adult hypokalaemic patients; to compare the phenotype of homozygous, heterozygous and non-mutated patients; and to determine the efficiency...

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Aldosterone
Diabetes Complications
Gitelman Syndrome
Hypokalemia
Kidney Function Tests

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PMID: 21753071
DOI: 10.1530/EJE-11-0224

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