NORMAL FIBRINOLYTIC RESPONSES TO 1-DESAMINO-8-D-ARGININE VASOPRESSIN IN PATIENTS WITH NEPHROGENIC DIABETES-INSIPIDUS CAUSED BY MUTATIONS INTHE AQUAPORIN-2 GENE

Three patients with autosomal-recessive nephrogenic diabetes insipidus (NDI), homozygous for mutations in the aquaporin 2 gene (AQP2), were tested for their fibrinolytic and hemodynamic responses to intravenous administration of 1-desamino-8-D-arginine vasopressin (DDAVP). They a ll showed an increase of tissue-type plasminogen activator antigen, fa cial flushing, an increase of heart rate and a decrease of diastolic b lood pressure. These results confirm the hypothesis that NDI patients with an AQP2 defect can be discriminated from NDI patients with a vaso pressin type 2 receptor defect by their normal extrarenal responses to DDAVP.