1例AQP2基因突变所致肾性尿崩症患儿临床特点及基因突变情况的分析
被引量：1
摘要
肾性尿崩症是一种罕见的肾小管功能异常性疾病,也是一种遗传性疾病。水通道蛋白2(AQP2)基因突变是引起性尿崩症的原因之一。本文主要是对1例水通道蛋白2(AQP2)基因突变所致肾性尿崩症患儿的临床特点及基因突变情况进行分析。
基金
郑州市科技局支持项目(项目编号141PPTGG329)
河南省卫计委支持项目(项目编号201403259)。
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