浙江医学2018，Vol.40Issue(1)：23-26,36,5.DOI:10.12056/j.issn.1006-2785.2017.40.1.2017-406
青少年Gitelman综合征2例临床特点及基因分析
Clinical features and gene mutation analysis of two young patients with Gitelman syndrome
摘要
Abstract
Objective To analyze the clinical features and SLC12A3 gene profile of Gitelman syndrome (GS).Methods The clinical symptoms,biochemical features and SLC12A3 gene mutations were analyzed in two young male patients with Gitelman syndrome (GS).Results The two patients presented with varying degrees of weakness.Laboratory tests confirmed hypokalemia,hypomagnesemia,hypocalciuria;a high blood renin activity and aldosterone levels were detected.After receiving a potassium chloride sustained-release tablets,potassium magnesium aspartate injection and calcium magnesium tablets,the serum potassium,magnesium,and chlorine levels were increased and the symptoms were relieved described.Three missense mutations were identified in the SLC12A3 gene of two patients at Thr163Met,Gly196Val,Arg871His;patient A had heterozygous mutations at Thr163Met and Arg871His,patient B had homozygotic mutation at Gly196Val.Conclusion SLC12A3 gene analysis is essential for early diagnosis of Gitelman syndrome.关键词
Gitelman综合征/突变/SLC12A3基因Key words
Gitelman syndrome/Mutation/SLC12A3 gene引用本文复制引用
阮璐雅,戴志娟,周盈盈,钱掩映,吴朝明..青少年Gitelman综合征2例临床特点及基因分析[J].浙江医学,2018,40(1):23-26,36,5.基金项目
浙江省自然科学基金资助(LY15H070003) （LY15H070003）
