Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations
Family trees of 4 Japanese patients with congenital nephrogenic diabetes insipidus due to the AVPR2 mutations. Family trees of (a) Case 1, (b) Case 2, and (c) Cases 3 and 4. Index cases, also indicated by arrows, are represented by filled boxes and carriers as half-filled circles. †X-inactivation patterns were analyzed; polydipsia and polyuria; mild polydipsia; ‡maternal grandfather of Case 1 had tendency of polydipsia, but the detail is not clear; ⁑as maternal grandfather of Case 2 is dependent on alcohol, and polydipsia and polyuria are not clear; §maternal grandfather of Cases 3 and 4 had a tendency of polydipsia, but the detail examination is not performed; #maternal uncle of Cases 3 and 4, who had been undergone artificial dialysis for renal failure, died at the age of forty-seven. The detail for renal failure was not clear; NA, not accessed.