Familial Gitelman Syndrome in Sisters / 대한신장학회잡지

ABSTRACT

Gitelman syndrome is a hereditary renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. This syndrome is caused by the genetic mutation of SLC12A3 gene encoding thiazide-sensitive sodium-chloride symporters in the apical membrane of distal convoluted tubular cells. Even though Gitelman syndrome is very similar to Bartter syndrome, it might be differentiated by hypomagnesemia, hypocalciuria, older onset age and higher prevalence rate. However, the precise diagnosis is made by gene variation through molecular genetic study. Herein, we report two cases of Gitelman syndrome in sisters diagnosed by familial genetic study.