ea0029p1515 | Pituitary Clinical | ICEECE2012
Pigarova E.
, Rozhinskaya L.
, Dzeranova L.
, Zenkova T.
, Tiulpakov A.
Water intake in central diabetes insipidus (CDI) usually falls in range of 320 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...