对一例Gitelman综合征伴反复自然流产患者的基因分析  

Genetic analysis of Gitelman syndrome in a patient with recurrent spontaneous abortion

作　　者：袁倩[1] 袁慧娟[1] 郑瑞芝[1] Yuan Qian;Yuan Huijuan;Zheng Ruizhi(Department of Endocrinology and Metabolism,Henan Provincial People′s Hospital,Zhengzhou,Henan 450003,China)

机构地区：[1]河南省人民医院内分泌代谢科,郑州450003

出　　处：《中华内分泌代谢杂志》2020年第4期333-336,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：河南省科技厅基础研究计划项目(142300410071)。

摘　　要：采用Sanger测序技术对1例伴有反复自然流产的Gitelman综合征可疑患者及其父母进行SLC12A3基因遗传学分析。结果显示,先证者存在SLC12A3基因复合杂合突变(c.1077C>G,c.2890C>T),引起氨基酸序列改变(p.N359K,p.R964W)。家系成员中母亲携带c.1077C>G(p.N359K)杂合变异,父亲携带c.2890C>T(p.R964W)杂合变异。提示Gitelman综合征患者因内环境失衡、复杂激素改变和电解质紊乱等可能造成不良妊娠结局,应加强妊娠期管理。Sanger sequencing was applied to analyze the SLC12A3 gene of a patient with suspected Gitelman syndrome(GS)and recurrent spontaneous abortions,as well as for her parents.The results showed that a compound heterozygous mutation(c.1077C>G,c.2890C>T)was found in the proband,which led to the change of amino acid sequence(p.N359K,p.R964W).Among the family members,her mother was a single heterozygotes mutation carrier of c.1077C>G(p.N359K)and her father had c.2890C>T(p.R964W)heterozygotes.These results suggest that the GS may cause adverse pregnancy outcomes due to imbalance of internal environment,complex hormonal changes,and electrolyte abnormalities.The pregnancy management should be strengthened.

关 键 词：GITELMAN综合征 SLC12A3基因 低钾血症 自然流产 

分 类 号：R71[医药卫生—妇产科学]