A Case of Gitelman's Syndrome Presented with Chest Pain and Syncope / 대한신장학회잡지

ABSTRACT

Gitelman's syndrome is a rare autosomal recessive, inherited renal tubular disorder, first described by Gitelman et al. in 1966, and it is characterized by hypokalemic metabolic alkalosis, hypomagnesemia, salt wasting, normal to low blood pressure and rather low urinary calcium excretion rates with elevated plasma renin activity. This syndrome is caused by inactivating mutation in the SLC12A3 gene coding for the thiazide-sensitive sodium chloride cotransporter in the distal convoluted tubule. In most of the patients with Gitelman's syndrome, the disease manifests with transient episodes of muscular weakness and tetany in the adulthood. Herein, we report a case of Gitelman's syndrome atypically presented with chest pain and syncope.