ea0065p308 | Neuroendocrinology | SFEBES2019
Siddiqui Shehla
, Filipas Emanuela
Background: Familial Diabetes Insipidus is a very rare entity and can have either neurohypophyseal (FNDI) or nephrogenic forms with different transmission patterns. FNDI accounts for less than 5% of the 1:25 000 cases of DI diagnosed in UK. It is usually an autosomal dominant disorder caused by mutations in AVP (arginine vasopressin) gene, which regulates the vasopressin hormone synthesis; its signs and symptoms of polyuria & polydipsia usually become apparent in childhood...