The purpose of this review is first to describe the importance of early detection of
vasopressin receptor mutations responsible for X-linked nephrogenic diabetes insipidus
(NDI). We have proposed that all families with hereditary diabetes insipidus should have
their molecular defect identified because early diagnosis and treatment of affected infants
can avert the physical and mental retardation that results from repeated episodes of
dehydration. Secondly, 95 published missense mutations responsible for X-linked NDI are …