Gitelman综合征合并肾病综合征1例报告并文献复习

目的总结SLC12A3基因变异致Gitelman综合征的诊断和治疗。方法回顾分析1例Gitelman综合征合并原发性肾病综合征患儿的临床资料,系统复习Gitelman综合征合并蛋白尿文献。结果6岁男性患儿,因肾病综合征复发就诊,持续低钾血症,同时伴尿钠及尿钾排出增多,低镁血症,代谢性碱中毒,低尿钙症,肾素血管紧张素系统激活,血压无异常,无特殊用药史及家族史。全外显子测序发现患儿16号染色体1号外显子SLC12A3基因存在c.179C>T(p.T60M)纯合错义变异(NM_000339),其父母均为携带者;ACMG评分为致病性突变。患儿确诊为肾病综合征合并Gitelman综合征。结论重视Gitelman综合征蛋白尿的评估和随访,保护肾功能。

Gitelman syndrome concurrent with nephrotic syndrome: a case report and literature review

Objective To explore the diagnosis and treatment of Gitelman syndrome caused by SLC12A3 gene mutation.Methods The clinical data of Gitelman syndrome concurrent with primary nephrotic syndrome in a child were retrospectively analyzed,and the related literature was systematically reviewed.Results A 6-year-old male child presented with recurrent nephrotic syndrome,persistent hypokalemia,increased urinary sodium and potassium excretion,hypomagnesemia,metabolic alkalosis,hypocalciuria and activated renin angiotensin-aldosterone system.There was no abnormal blood pressure,no history of special medication and no family history.Whole exome sequencing revealed that the child had a homozygous missense mutation of c.179C>T(p.T60M)in exon 1 of SLC12A3 gene on chromosome 16,and both of his parents were carriers.It was determined to be a pathogenic mutation by ACMG score.The child was diagnosed of nephrotic syndrome concurrent with Gitelman syndrome.By reviewing the literature,Gitelman syndrome may be associated with proteinuria.Conclusion Importance should be recognized in the evaluation and follow-up of proteinuria in Gitelman syndrome and protection of the renal function.