一例误诊为低钾性周期性麻痹的Gitelman综合征的临床和基因分析  

Clinical and genetic analysis of a patient with Gitelman syndrome misdiagnosed as hypokalemic periodic paralysis

作　　者：高敏 郎琼 张开慧 律玉强 马健 金瑞峰 盖中涛 刘毅 Gao Min;Lang Qiong;Zhang Kaihui;Lv Yuqiang;Ma Jian;Jin Ruifeng;Gai Zhongtao;Liu Yi(Institute of Pediatric Research,Qilu Children’s Hospital,Shandong University,Jinan,Shandong 250022,China;Department of Neurological Endocrinology,Qilu Children’s Hospital,Shandong University,Jinan,Shandong 250022,China)

机构地区：[1]山东大学齐鲁儿童医院儿科研究所,济南250022 [2]山东大学齐鲁儿童医院神经内分泌科,济南250022

出　　处：《中华医学遗传学杂志》2020年第6期653-656,共4页Chinese Journal of Medical Genetics

摘　　要：目的对1例误诊为低钾性周期性麻痹的患儿进行临床和基因分析,明确其诊断和遗传学病因。方法对1例15岁无明显诱因出现乏力拟诊为周期性麻痹的患儿进行临床和实验室检查,并抽取患儿及其父母的外周静脉血,应用二代目标区域捕获测序技术对患儿进行临床外显子组的检测,对可疑变异位点进行患儿及其父母的Sanger测序验证。结果实验室检查血钾低,血镁正常,基因检测示SLC12A3基因存在c.179C>T和c.539C>A复合杂合变异,诊断为Gitelman综合征。结论儿童出现低钾血症需注意Gitelman综合征,其易与其它低钾性疾病相混淆,基因检测有助于明确诊断。Objective To explore the genetic basis for a child suspected for hypokalemic periodic paralysis.Methods Clinical data of the patient was collected,and venous blood samples were taken from the patient and his parents for the extraction of genomic DNA.Next generation sequencing(NGS)with target capture was carried out to detect potential variants.Suspected variants were validated by Sanger sequencing.Results The child developed fatigue without obvious reason at the age of 15.Laboratory test revealed hypokalemia but normal serum magnesium.Genetic testing discovered that he has carried two variants in the SLC12A3 gene,namely c.179C>T and c.539C>A.The patient was diagnosed with Gitelman syndrome.Conclusion For children with hypokalemia,genetic testing should be considered for the differential diagnosis of Gitelman syndrome from hypokalemia due to other causes.

关 键 词：GITELMAN综合征 低血钾 SLC12A3基因 

分 类 号：R726.9[医药卫生—儿科] R440[医药卫生—临床医学]