Characterization of AQP-2 gene mutation (R254Q) in a family with dominant nephrogenic DI

被引：11

作者：

Shida, Yoko ^{[1
]}

Matsuoka, Hisafumi ^{[1
]}

Chiga, Motoko ^{[2
]}

Uchida, Shinichi ^{[2
]}

Sasaki, Sei ^{[2
]}

Sugihara, Shigetaka ^{[1
]}

机构：

[1] Tokyo Womens Med Univ, Med Ctr E, Dept Pediat, Tokyo 1168567, Japan

[2] Tokyo Med & Dent Univ, Dept Homeostasis Med & Nephrol, Tokyo, Japan

来源：

PEDIATRICS INTERNATIONAL | 2013年 / 55卷 / 01期

基金：

日本学术振兴会;

关键词：

aquaporin; 2; diabetes insipidus; gene mutation; nephrogenic; R254Q; DIABETES-INSIPIDUS;

D O I：

10.1111/j.1442-200X.2012.03614.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 [儿科学];

摘要：

We identified the AQP-2 gene mutation (R254Q) in a family with dominant NDI. The patient studied here has NDI with partial response to the anti-diuretic effect of AVP and dDAVP. Hereditary NDI seems to have the uniform clinical manifestations, but this might only reflect the information on screened patients with clear clinical presentations. It may be that a milder form of NDI has been overlooked due to a lack of genetic identification. Gene mutation analysis should be considered even in patients with mild NDI symptoms. Fortunately, both V2R and AQP2 genes are small and can be easily analyzed.

引用

页码：105 / 107

页数：3

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