∗通信作者,E-mail:zhangyu05172021@163.comSLC12A3基因新突变导致Gitelman综合征的家系分析张瑜1,方婷婷2∗(1.盱眙县人民医院内分泌科,江苏盱眙211700;2.宿迁市第一人民医院重症医学科,江苏宿迁223800)摘要:目的探讨1个Gitelman综合征家系的临床特征及遗传学病因,并进行文献复习。方法对先证者进行查体、电解质测定、外显子组测序及分析,对目标变异进行Sanger测序并在家系成员中验证。结果先证者及其同胞姐姐均符合Gitelman综合征诊断,表现为低血钾、低血镁、低尿钙、正常血压。2人均携带SLC12A3基因c.1850A>G、c.909delG复合杂合突变,均为新突变。三代家系成员中3人携带c.1850A>G杂合突变,2人携带c.909delG杂合突变,杂合子无低血钾。结论SLC12A3基因c.1850A>G、c.909delG新突变是该家系致病突变。关键词:Gitelman综合征;SLC12A3基因;低血钾症;低镁血症;基因突变中图分类号:R589.4文献标志码:A文章编号:2096-3882(2023)09-0693-04DOI:10.3969/j.issn.2096-3882.2023.09.013AnalysisofnovelmutationsofSLC12A3geneinapedigreewithGitelmansyndromeZHANGYu1,FANGTingting2∗(1.DepartmentofEndocrinologyandMetabolism,XuyiPeople′sHospital,Huai′an,Jiangsu211700,China;2.DepartmentofCriticalCareMedicine,SuqianFirstPeople′sHospital,Suqian,Jiangsu223800)Abstract:ObjectiveToinvestigatetheclinicalfeaturesandgeneticetiologyofapedigreewithGitelmansyndromeandreviewtheliterature.MethodsPhysicalexamination,electrolytedetermination,andexomesequencingwereperformedontheproband.ThetargetmutationwasanalyzedbySangersequencingandverifiedinfamilymembers.ResultsTheprobandandhissisterwerediagnosedwithGitelmansyndrome,withhypokalemia,hypomagnesemia,hypocalciuriaandwithouthypertension.Boththeprobandandhissistershowedcompoundheterozygousmutationsc.1850A>Gandc.909delGinSLC12A3gene.Threeofthefamilymemberscarriedthemutationc.1850A>G,whiletwoofthemcarriedthemutationc.909delG.Nohypokalemiawasfoundinheterozygotes.ConclusionsThenovelmutationsc.1850A>Gandc.909delGinSLC12A3genecauseGitelmanSyndromeinthisfamily.Keywords:Gitelmansyndrome;SLCl2A3gene;hypokalemia;hypomagnesemia;genemutationGitelman综合征(GS)是一种以肾小管失盐为重要特征的隐性遗传病,临床表现为“五低一高”:低血钾、低血...
