三例Gitelman综合征患者临床特点及基因突变分析  

Clinical features and genetic analysis of three patients with Gitelman syndrome

作　　者：祝洁[1] 袁晓岚[1] 张曼娜[1] 李妍[1] 程晓芸[1] 李鸿[1] 曲伸[1] 

机构地区：[1]上海市第十人民医院内分泌科,200072

出　　处：《中华内分泌代谢杂志》2016年第7期590-593,共4页Chinese Journal of Endocrinology and Metabolism

摘　　要：收集3例Gitelman综合征（ GS）患者的临床资料,并提取患者的外周血单个核细胞基因组DNA,应用PCR扩增SLC12A3基因及CLCNKB基因的所有外显子及侧翼内含子区域并直接测序。3例患者均表现为反复低血钾、低血镁、低尿钙、低氯性代谢性碱中毒,但血压均正常。基因测序结果显示患者2 SLC12A3基因的23号外显子存在1个新的点突变p. L891V；患者1和患者3 CLCNKB基因分别存在7种和12种多态性位点,但均未在SLC12A3和CLCNKB基因发现突变位点。[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.

关 键 词：GITELMAN综合征 基因突变 SLC12A3基因 CLCNKB基因 

分 类 号：R692.6[医药卫生—泌尿科学]