Article
Characterization of AQP-2 gene mutation (R254Q) in a family with dominant nephrogenic DI.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Feb 2013
Shida Yoko, Matsuoka Hisafumi, Chiga Motoko, Uchida Shinichi, Sasaki Sei, Sugihara Shigetaka
Abstract excerpt
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...
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