hrp0082p2-d2-333 | Diabetes (1) | ESPE2014

A Novel AVPR2 Mutation (L161P) Causing Partial Nephrogenic Diabetes Insipidus

Yamashita Sumie , Hata Astuko , Kaneko Naoto , Usui Takeshi , Hata Daisuke

Background: Nephrogenic diabetes insipidus (NDI) is a disorder characterized by renal resistance to the antidiuretic effect of AVP. Affected patients are exhibiting symptoms as polyuria and polydipsia. Approximately 90% of congenital NDI are inherited in an X-linked recessive manner and caused by mutations of arginine vasopressin type 2 receptor (AVPR2) gene.Objective and hypotheses: An 8-year-old Japanese boy was referred to our hospital for nocturnal e...