ATP6V0A4基因突变致远端肾小管酸中毒1例报告

The distal renal tubular acidosis caused by ATP6 V0A4 gene mutation:a case report

目的探讨远端肾小管酸中毒(DRTA)的临床特点及基因诊断。方法回顾分析1例DRTA患儿的临床资料以及基因检测结果,并复习相关文献。结果3月龄男婴,频繁呕吐入院,实验室检查示顽固性低钠血症、低钾血症和难以纠正的代谢性酸中毒,基因检测发现ATP6V0A4基因突变,确诊为DRTA。结论DRTA是一种罕见病,ATP6V0A4基因是DRTA的致病基因,本研究发现该患儿有2个突变位点,其中1个为新突变位点,丰富了人类基因突变库,有利于遗传咨询和对该病发病机制的更好理解。

Objective To explore the clinical features and gene diagnosis of the distal renal tubular acidosis(DRTA).Methods The clinical data and gene detection results of one child with DRTA were retrospectively analyzed.The related literatures were reviewed.Results Three-month-old female was admitted because of frequent vomiting.The laboratory examination showed refractory hyponatremia,hypokalemia,and irreformable metabolic acidosis.Gene detection found a new mutation on ATP6V0A4 gene.The diagnosis of DRTA was confirmed.Conclusions DRTA is a rare disease,ATP6V0A4 gene is the causative gene of the DRTA.The study has found 2 mutation sites,including 1 new mutation site,which enriches the human gene mutation database(HGMD)and contributes to a better understanding of the disease mechanisms.