急诊低钾患者中Gitelman综合征的临床特点及基因分析  

Clinical characteristics and genetic analysis of Gitelman syndrome in emergency patients with hypokalemia

作　　者：李锦新 路荣梅 林纬[1,2] 陈刚[1,2] 温俊平[1,2] LI Jin-xin;LU Rong-mei;LIN Wei;CHEN Gang;WEN Jun-ping(Shengli Clinical Medical College of Fujian Medical University,Fuzhou,350001,China;Department of Endocrinology,Fujian Provincial Hospital,Fuzhou 350001,Fujian,China)

机构地区：[1]福建医科大学省立临床医学院,福州350001 [2]福建省立医院内分泌科,福州350001

出　　处：《创伤与急诊电子杂志》2019年第3期120-126,共7页Journal of Trauma and Emergency(Electronic Version)

基　　金：福建省卫计委青年科研课题(2017-1-4)

摘　　要：目的对2例拟诊Gitelman综合征(Gitelman syndrome,GS)患者的临床特点和SLC12A3基因进行综合分析,以加深对GS的认识,提高临床急诊工作中对该病的辨识。方法选获得患者的知情同意后,采用聚合酶链式反应(polymerase chain reaction,PCR)扩增结合DNA直接测序技术,对患者的外周血基因组DNA进行SLC12A3基因突变分析。结果2例拟诊患者均检测出之前已报道的SLC12A3基因致病突变位点,可以确诊GS:病例1是内含子纯合突变,是22号外显子上游第一个碱基由G突变为A。病例2是外显子的复合杂合突变,为T60M/S710X+R928C。结论基因检测发现SLC12A3基因突变的结果可明确GS的诊断,为后续的随访、治疗提供参考意见,还可以为患者及家族中的基因携带者在生育前提供遗传咨询。Objective To improve the identification of Gitelman syndrome(GS)in patients with acute hypokalemia by analyzing clinical symptoms and SLC12A3 gene of the 2 suspected cases.Methods After the informed consent was obtained,polymerase chain reaction(PCR)amplification and DNA direct sequencing technology were used to analyze the SLC12A3 gene mutation in the DNA derived from the patients’peripheral whole blood.Results The pathogenic mutations of SLC12A3 gene reported in previous articles were detected in both cases,which could confirm the diagnosis of GS.Case 1 was caused by homozygous mutation of intron(IVS22+1G→A).Case 2 was caused by compound heterozygous mutations of exon(T60M/S710X+R928C).Conclusion The detection of pathogenic mutations of SLC12A3 gene can help confirm the diagnosis of GS,and it also provides reference for the follow-up and treatment as well as the prenatal genetic counseling for patients and genetic carriers in the family.

关 键 词：低钾血症 GS SLC12A3基因 

分 类 号：R73[医药卫生—肿瘤]