title: Normal fibrinolytic responses to 1-desamino-8-D-arginine vasopressin in patients with nephrogenic diabetes insipidus caused by mutations in the aquaporin 2 gene.
abstract: 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 all showed an increase of tissue-type plasminogen activator antigen, facial flushing, an increase of heart rate and a decrease of diastolic blood pressure. These results confirm the hypothesis that NDI patients with an AQP2 defect can be discriminated from NDI patients with a vasopressin type 2 receptor defect by their normal extrarenal responses to DDAVP.
authors.affiliation: Department of Pediatrics, University Hospital Nijmegen, The Netherlands.
authors.forename: A F
authors.initials: AF
authors.lastname: van Lieburg
authors.forename: V V
authors.initials: VV
authors.lastname: Knoers
authors.forename: R
authors.initials: R
authors.lastname: Mallmann
authors.forename: W
authors.initials: W
authors.lastname: Proesmans
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: L A
authors.initials: LA
authors.lastname: Monnens
mesh_terms: D000293:Adolescent; D000328:Adult; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins; D003894:Deamino Arginine Vasopressin; D018500:Diabetes Insipidus, Nephrogenic / Q000097:blood* / Q000235:genetics*; D005260:Female; D005342:Fibrinolysis / Q000187:drug effects*; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D008297:Male; D009154:Mutation; D010959:Tissue Plasminogen Activator / Q000378:metabolism
chemical_list: C496023:AQP2 protein, human; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins; D007473:Ion Channels; D010959:Tissue Plasminogen Activator; D003894:Deamino Arginine Vasopressin