Clinical features and genetic analysis of three patients with Gitelman syndrome

The clinical data of 3 inpatients clinically diagnosed as Gitelman syndrome(GS)were collected. The genomic DNA was isolated from the peripheral blood and the primers were designed to amplify all the exons and flanking introns in the SLC12A3 and CLCNKB genes by PCR. Direct sequencing of PCR products in the two genes was performed in all patients. Three patients manifested with recurrent hypokalemia, hypomagnesemia, hypocalciuria, hypochloremic metabolic alkalosis, but normal blood pressure. Gene sequencing results showed that one novel mutation p. L891V was identified in SLC12A3 gene in case 2. Seven and 12 types of polymorphic loci in the CLCNKB gene were found in case 1 and case 3, respectively. However, mutations were not found in the SLC12A3 and CLCNKB gene. (Chin J Endocrinol Metab, 2016, 32: 590-593) Key words: Gitelman syndrome; Gene mutation; SLC12A3 gene; CLCNKB gene