Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1515 | Pituitary Clinical | ICEECE2012

Familial central diabetes insipidus with extremely high water intake

Pigarova E. , Rozhinskaya L. , Dzeranova L. , Zenkova T. , Tiulpakov A.

Water intake in central diabetes insipidus (CDI) usually falls in range of 3–20 l a day. Intake of more than 20 l is regarded as physiologically unnecessarily even in the absence of antidiuretic hormone. We describe a family with 8 members suffering from autosomal recessive form of CDI due to mutation C105Y (codon numeration is given for preprovasopressin) in AVP gene. In all family members disease had presented in neonatal period or early childhood. It is remarkable that...