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 及基因检测结果，并复习相关文献。结果　4月龄女性患儿，频繁呕吐入院，伴听力障碍，实验室检查示顽固性低钾血症和 难以纠正的代谢性酸中毒，基因检测发现ATP6V1B1基因突变，确诊为dRTA。结论　dRTA是一种罕见病，ATP6V1B1基因 是dRTA伴感音神经性耳聋的致病基因。

　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　Four-month-old female was admitted with frequent vomiting and hearing impairment. The laboratory examination showed refractory hypokalemia and it was difficult to correct metabolic acidosis. Gene detection found a new mutation on ATP6V1B1 gene. The diagnosis of dRTA was confirmed. Conclusions　dRTA is a rare disease, ATP6V1B1 gene is the causative gene of the dRTA with sensorineural deafness.