Abstract
Autosomal dominant NHDI is a familial form of antidiuretic hormone deficiency, usually expressed in early childhood with polyuria, polydipsia, and an antidiuretic response to exogenous vasopressin or its analog. We report a family with evidence of NHDI in four generations. Diagnosis was confirmed with plasma and urine osmolarity under water restriction, and a good response to DDAVP (VP analog) in the patients receiving treatment. The family, of Russian-German ancestry, lives in the southwest of Buenos Aires province, Argentina. Most affected members did not seek medical attention, as they viewed the symptoms as a natural occurrence in their family, in spite of diuresis over 12 liters a day, and single voiding volumes over 1.5 liters. Phenotypic expression was variable. Molecular studies were performed trying to characterize a mutation of the AVP-NP II gene, encoding AVP, its carrier protein NP II, and a glycoprotein of unknown function. A Guanine to Adenine mutation was detected in the nucleotide 1859, that encodes a change from Glycine to Serine at Aminoacid 57 of NP II. Five different mutations have been reported up to this time. The mutation in this family has also been described in a Japanese kindred.
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