泌尿系统疾病专栏

ATP6V1B1 基因突变致远端肾小管酸中毒1 例报告

  • 徐菱阳 ,
  •  杨保旺
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  • 兰州大学第二医院小儿重症科(甘肃兰州 730000)

收稿日期: 2017-06-15

  网络出版日期: 2017-06-15

The distal renal tubular acidosis caused by ATP6V1B1 gene mutation:a case report

  • XU Lingyang ,
  • YANG Baowang
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  • Department of Pediatric Intensive Care Unit, The Second Hospital of Lanzhou University, Lanzhou 730000, Gansu, China

Received date: 2017-06-15

  Online published: 2017-06-15

摘要

 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。

本文引用格式

徐菱阳 ,  杨保旺 . ATP6V1B1 基因突变致远端肾小管酸中毒1 例报告[J]. 临床儿科杂志, 2017 , 35(6) : 415 . DOI: 10.3969/j.issn.1000-3606.2017.06.005

Abstract

 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.
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