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Characterization of AQP‐2 gene mutation (R254Q) in a family with dominant nephrogenic DI
Author(s) -
Shida Yoko,
Matsuoka Hisafumi,
Chiga Motoko,
Uchida Shinichi,
Sasaki Sei,
Sugihara Shigetaka
Publication year - 2013
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.2012.03614.x
Subject(s) - medicine , mutation , gene , identification (biology) , genetics , diuretic , bioinformatics , biology , botany
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.