Article
Compound heterozygous mutation of aquaporin 2 gene in woman patient with congenital nephrogenic diabetes insipidus.
Internal medicine (Tokyo, Japan) - 1 Jan 2009
Tsutsumi Zenta, Inokuchi Taku, Tamada Daisuke, Moriwaki Yuji, Ka Tsuneyoshi, Takahashi Sumio, Yamamoto Tetsuya
Abstract excerpt
We performed mutational analyses of a woman patient with congenital nephrogenic diabetes insipidus referred to us during pregnancy. The diagnosis was made during the neonatal period, after which she was treated with spironolactone and hydrochlorothiazide. Our examination showed the patient to be apparently in good health without definite evidence of dehydration. Serum and urine osmolality were 220 mOsm/L and 50...
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