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


Hisafumi Matsuoka, MD, Department of Pediatrics, Tokyo Women's Medical University Medical Center East, 2-1-10, Nishiogu, Arakawa-ku, Tokyo 116-8567, Japan. Email:


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.