23例儿童肾性低钾血症的临床表现及遗传学病因分析  

Clinical manifestations and genetic etiology of renal hypokalemia in 23 children

作　　者：朱彤 张改秀[2] 纪可佳 赵润涵 王紫薇 王妮娜 ZHU Tong;ZHANG Gaixiu;JI Kejia;ZHAO Runhan;WANG Ziwei;WANG Nina(Department of Pediatrics,Shanxi Medical University,Taiyuan,Shanxi 030000,China;Endocrine and Genetic Metabolism Section,Children's Hospital of Shanxi,Taiyuan,Shanxi 030000,China)

机构地区：[1]山西医科大学儿科教研室,山西太原030000 [2]山西省儿童医院内分泌与遗传代谢科,山西太原030000

出　　处：《中国优生与遗传杂志》2024年第4期727-733,共7页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨不同病因所致儿童肾性低钾血症的临床表现及遗传学特点。方法回顾性分析2010—2023年在山西省儿童医院诊治的23例肾性低钾血症患儿的临床资料及基因检测结果。结果23例患儿中有男性15例,女性8例,初诊时临床表现按发生率高低依次为生长发育落后,呕吐、腹泻,多饮多尿,肌无力,便秘,高血压,手足搐搦,脱水,喂养困难等。实验室检查主要表现为低血钾、24小时尿电解质结果的异常、部分伴有肾素血管紧张素醛固酮活性的改变。对23例患儿采取全外显子组测序,并对其标准家系成员进行Sanger测序技术验证其变异位点,共发现8种基因突变,包括CLCNKB、SLC12A1、SLC12A3、CFTR、CYP17A1、HSD11B2、NPHP1、ATP6V0A4基因,其中以CLCNKB基因突变导致的3型Bartter综合征及SLC12A3基因突变导致的Gitelman综合征多见。结论儿童肾性低钾血症的临床表现缺乏特异性,病因以遗传因素为主,详细的实验室检查及基因检测可以及早明确诊断,为遗传咨询提供依据。Objective To investigate the clinical manifestations and genetic characteristics of renal hypokalemia in children caused by different causes.Methods The clinical data and genetic test results of 23 children with renal hypokalemia diagnosed and treated in Children's Hospital of Shanxi from 2010 to 2023 were retrospectively analyzed.Results Among the 23 patients,15 were males and 8 were females.The clinical manifestations at initial diagnosis were developmental lag,vomiting,diarrhea,polydipsia and polyuria,myasthenia,constipation,hypertension,twitching,dehydration and feeding difficulties in order of incidence.Laboratory tests were mainly characterized by hypokalemia,abnormal 24 h urine electrolyte results,and partly accompanied by changes in renin angiotensin aldosterone activity.Whole exome sequencing was performed on 23 children,and Sanger sequencing was performed on standard family members to verify their mutation sites.A total of 8 gene mutations were found,including CLCNKB,SLC12A1,SLC12A3,CFTR,CYP17A1,HSD11B2,NPHP1,ATP6V0A4 genes.Bartter syndrome type 3 caused by CLCNKB gene mutation and Gitelman syndrome caused by SLC12A3 gene mutation were more common.Conclusion The clinical manifestations of renal hypokalemia in children are lack of specificity,and the etiology is mainly genetic.Detailed laboratory examination and genetic detection can make early diagnosis and provide basis for genetic counseling.

关 键 词：低钾血症 遗传性肾小管疾病 BARTTER综合征 GITELMAN综合征 

分 类 号：R726.9[医药卫生—儿科]