Gitelman综合征临床特点及诊治方法  

Clinical features and treatment of Gitelman syndrome

作　　者：何晓玉 张晓玲[1] 乐晗 余学锋[1] 邵诗颖[1] HE Xiao-yu;ZHANG Xiao-ling;YUE Han;YU Xue-feng;SHAO Shi-ying(Department of Endocrinology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Branch of National Clinical Research Center for Metabolic Diseases,Hubei Wuhan 430030,China)

机构地区：[1]华中科技大学同济医学院附属同济医院内分泌内科,国家代谢性疾病临床医学研究中心分中心,湖北武汉430030

出　　处：《内科急危重症杂志》2024年第2期129-133,145,共6页Journal of Critical Care In Internal Medicine

基　　金：国家自然科学基金青年项目(81900706)。

摘　　要：目的:分析Gitelman综合征的临床特点及诊治方法。方法:选取诊断为Gitelman综合征的3例患者作为研究对象,回顾性分析其临床表现、生化检查,并抽取患者的外周血进行全外显子高通量二代测序分析,结合文献报道讨论本疾病的临床特征与诊治经验。结果:3例患者均为成年发病,血压均正常。病例1无明显低钾症状,由体检时偶然发现而就诊;病例2和病例3均有低钾相关临床表现,补钾后症状可缓解。病例1和病例2表现为低钾、低镁、肾性失钾、低尿钙、代谢性碱中毒,病例3轻度低钾,血镁正常,也存在肾性失钾及低尿钙,3例患者均有肾素-血管紧张素-醛固酮系统的激活。基因检测结果示病例1和病例2为SCL12A3基因复合杂合突变,病例3仅发现单杂合突变,其中病例2的移码突变c.976delG既往未被报道,致病性软件预测该变异为可能致病。本文3例患者通过补充钾和镁后症状改善,血钾、血镁水平达到治疗目标。结论:Gitelman综合征的临床表现缺乏特异性,诊断有赖于实验室检查及基因检测,预后良好。Objective:To analyze the clinical features and treatment of Gitelman syndrome.Methods:Totally,3 patients diagnosed with Gitelman syndrome were included.The clinical manifestations and biochemical examinations were retrospectively analyzed,and peripheral blood samples from the patients were obtained for whole exome sequencing.In addition,the clinical characteristics,diagnosis and treatment of this disease in combination with literature review were discussed and summarized.Results:These 3 patients in the current study were all adult-onset and had normal blood pressure.Case 1 had no obvious symptoms of hypokalemia and was presented by incidental discovery during physical examination.The case 2 and case 3 had clinical manifestations associated with hypokalemia.These symptoms could be relieved by potassium supplementation.Cases 1 and 2 showed hypokalemia,hypomagnesia,renal potassium loss,hypocalcuria and metabolic alkalosis.Case 3 had mild hypokalemia and normal serum magnesium,as well as renal potassium loss and hypocalcuria.All 3 patients had the activation of the renin-angiotensin-aldosterone system.The results of genetic testing showed that cases 1 and 2 had SCL12A3 compound heterozygous mutations,and case 3 only presented monoheterozygous mutations.The frameshift mutation c.976delG in case 2 has not been previously reported,and the pathogenetic prediction tools categorized it as likely pathogenic.In this study,the symptoms of 3 patients were improved by potassium and magnesium supplementation.Conclusions:The clinical manifestations of Gitelman syndrome lack specificity.The diagnosis depends on laboratory detections and genetic testing.The prognosis of this disease is good.

关 键 词：GITELMAN综合征 低钾血症 SCL12A3基因 

分 类 号：R692.6[医药卫生—泌尿科学]