ICEECE2012 Poster Presentations Pituitary Clinical (183 abstracts)
Familial central diabetes insipidus with extremely high water intake
E. Pigarova , L. Rozhinskaya , L. Dzeranova , T. Zenkova & A. Tiulpakov
Endocrinology Research Centre, Moscow, Russian Federation.
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 without desmopressin the water intake/output ranges from 30 to 34 l a day and is up to 3–4 l on 0.8 mg of oral desmopressin.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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