Gitelman syndrome

Definition:

Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria and is caused by mutations in the thiazide-sensitive sodium chloride transporter.

References:

[1]. Eva Riveira-Munoz, et al. Gitelman's syndrome: towards genotype-phenotype correlations?. Pediatr Nephrol. 2007 Mar;22(3):326-32. [Content Brief]

[2]. Nine V A M Knoers, et al. Gitelman syndrome. Orphanet J Rare Dis. 2008 Jul 30;3:22. [Content Brief]

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