以腹痛为首发症状的轻型Gitelman综合征患儿1例及文献复习  

Children with mild Gitelman syndrome presenting with recurrent abdominal pain:a case report and literature review

作　　者：阚路兰 田茂强 唐一蜜 Kan Luan;Tian Maoqiang;Tang Yimi(Department of Pediatrics,People's Hospital of Wuchuan County,Zunyi 564300,Guizhou Province,China;Department of Pediatrics,Affiliated Hospital of Zunyi Medical University/Children's Hospital of Guizhou Province,Zunyi 563000,Guizhou Province,China)

机构地区：[1]务川县人民医院小儿内科,遵义564300 [2]遵义医科大学附属医院/贵州省儿童医院小儿内科,遵义563000

出　　处：《中华妇幼临床医学杂志（电子版）》2023年第4期473-479,共7页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：贵州省科技厅基础研究计划(黔科合基础ZK[2021]一般418)

摘　　要：目的:探讨1例以腹痛为首发症状的轻型Gitelman综合征(GS)患儿临床特征及诊疗结果,并进行相关文献复习,为临床诊治该病患儿提供参考。方法:选择2021年8月25日于务川县人民医院就诊而被确诊的1例轻型GS患儿(患儿1)为研究对象。回顾性分析本例患儿1的临床病例资料,包括病史、临床表现、实验室检查与基因检测结果、治疗及随访等。分别以"Gitelman综合征""吉特曼综合征""儿童"及"Gitelman syndrome""child""SLC12A3"为中、英文关键词,在中国知网、万方数据知识服务平台及PubMed数据库中检索明确诊断为SLC12A3基因突变的0~18岁GS患儿。文献检索年限设定为2018年1月至2022年12月。总结该病患儿首发临床表现。本研究遵循的程序符合务川县人民医院伦理委员会的规定,并通过该伦理委员会审查及批准[审批文号:2022年人医伦审第(02)号]。结果:①患儿1为女性,11岁8个月龄,因"反复腹痛、低血钾(K+)7+年",于病例收集医院就诊。患儿1于4岁起病,以腹痛为主要临床表现,伴或不伴腹泻,无腹胀,偶有轻度乏力表现,无手足抽搐与麻木及多汗、多饮、多尿、遗尿等表现,长期低血K+。入院体格检查提示,腹软,全腹无包块,剑突下与脐周稍压痛,无反跳痛与肌紧张。入院相关辅助检查结果提示,血K+浓度为3.13 mmol/L(偏低),血Mg^(2+)、Ca^(2+)、Na^(+)、Cl^(-)浓度均正常,肾脏超声未见异常。患儿病情反复,低血K+病因不明确,经反复补K+治疗效果差,考虑遗传性疾病可能。基因检测结果显示,患儿1 SLC12A3基因c.1000C>T(p.Arg334Trp)与c.1034C>T(p.Ser345Phe)复合杂合突变,分别遗传自父亲与母亲。根据患儿1临床表现与基因检测结果,确诊为GS患儿。采取口服氯化钾(KCl)、螺内酯与依那普利治疗后,随访至2022年5月,患儿1消化道症状消失,血K+浓度正常。②文献复习结果:根据本研究设定的文献检索策略,检索到国内外关于GS患儿Objective:To explore clinical characteristics,diagnosis and treatment results of a child with mild Gitelman syndrome(GS),and review related literature,so as to provide reference for clinical diagnosis of children with GS.Methods:One girl(patient-1)with mild GS who visited People′s Hospital of Wuchuan County on August 25,2021 was selected as research subject.Her clinical data were retrospectively analyzed,including medical history,clinical manifestations,laboratory tests and genetic test results,treatment and follow-up results.Literature of children aged 0 to 18 years with a confirmed diagnosis of GS caused by SLC12A3 gene mutations were retrieved with"Gitelman syndrome""child"and"SLC12A3"etc.as keywords in CNKI,Wanfang service platform and PubMed database,and the search time was set from January 2018 to December 2022.The initial clinical manifestations of children with GS were summarized.The procedure followed in this study was in accordance with regulations of the Ethics Committee of People′s Hospital of Wuchuan County,and was reviewed and approved by the Ethics Committee(Approval No.02-2022).Results:①Patient-1 was a girl of 11 years and 8 months old who admitted to case collected hospital with"recurrent abdominal pain and low serum K+concentration for 7+years".Her condition began at age of 4,with abdominal pain as primary clinical manifestation,combined or non-combined with diarrhea.There was no abdominal distention,occasional mild fatigue,without symptoms of limb convulsions,numbness,excessive sweating,increased thirst,polyuria,or enuresis,and with long-term hypokalemia.Physical examination at admission showed that abdomen was soft with no palpable masses throughout.The results of relevant auxiliary examinations at admission showed low serum K+concentration which was 3.13 mmol/L,while serum Mg^(2+),Ca^(2+),Na^(+),and Cl^(-)concentrations were normal,and result of renal ultrasound was also normal.Her condition was recurrent,without a clear cause for low serum blood K+concentration,and treatment effect on

关 键 词：GITELMAN综合征 水、电解质失调 钠-氯协同转运蛋白 SLC12A3基因突变 低钾血症 腹痛 儿童 

分 类 号：R726.9[医药卫生—儿科]