Clinical features and genetic analysis of three patients with Gitelman syndrome

VernacularTitle:三例Gitelman综合征患者临床特点及基因突变分析
Author: Jie ZHU ; Xiaolan YUAN ; Manna ZHANG ; Yan LI ; Xiaoyun CHENG ; Hong LI ; Shen QU
Publication Type:Journal Article
Keywords: Gitelman syndrome; Gene mutation; SLC12A3 gene; CLCNKB gene
From: Chinese Journal of Endocrinology and Metabolism 2016;32(7):590-593
CountryChina
Language:Chinese
Abstract: [Summary] 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.