Eur J Pediatr. 1991 Mar;150(5):370-3.

A variant of nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney.

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Department of Human Genetics, University Hospital Nijmegen, The Netherlands.

Abstract

In congenital nephrogenic diabetes insipidus (NDI) blunted responses of plasma factor VIII, von Willebrand factor, and plasminogen activator to the synthetic V2 analogue 1-desamino-8-D-arginine vasopressin (DDAVP) have been reported. In addition, vasodilatory responses to DDAVP appear to be absent in NDI. We describe a boy, who presented shortly after birth with the typical features of NDI, but who showed normal coagulation, fibrinolytic and vasodilatory responses to DDAVP. We conclude that in this patient the defect is confined to the kidney, while in other NDI patients there may be a general V2 receptor abnormality. These findings point to heterogeneity in NDI.

PMID:: 1828422; [PubMed - indexed for MEDLINE]

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Hemodynamic and coagulation responses to 1-desamino[8-D-arginine] vasopressin in patients with congenital nephrogenic diabetes insipidus. [N Engl J Med. 1988]
Hemodynamic and coagulation responses to 1-desamino[8-D-arginine] vasopressin in patients with congenital nephrogenic diabetes insipidus.
Bichet DG, Razi M, Lonergan M, Arthus MF, Papukna V, Kortas C, Barjon JN. N Engl J Med. 1988 Apr 7; 318(14):881-7.
1-Desamino-8-D-arginine vasopressin (DDAVP) in patients with congenital nephrogenic diabetes insipidus. [Neth J Med. 1993]
1-Desamino-8-D-arginine vasopressin (DDAVP) in patients with congenital nephrogenic diabetes insipidus.
Brink HS, Derkx FH, Boomsma F, Brommer EJ, Schalekamp MA. Neth J Med. 1993 Aug; 43(1-2):5-12.
Normal homeostasis of fibrinolysis in nephrogenic diabetes insipidus in spite of defective V2- receptor-mediated responses of tissue plasminogen activator release. [Eur J Clin Invest. 1990]
Normal homeostasis of fibrinolysis in nephrogenic diabetes insipidus in spite of defective V2- receptor-mediated responses of tissue plasminogen activator release.
Brommer EJ, Brink H, Derkx FH, Schalekamp MA, Stibbe J. Eur J Clin Invest. 1990 Feb; 20(1):72-8.
Review Nephrogenic diabetes insipidus: identification of the genetic defect. [Pediatr Nephrol. 1993]
Review Nephrogenic diabetes insipidus: identification of the genetic defect.
Knoers N, van den Ouweland A, Dreesen J, Verdijk M, Monnens LA, van Oost BA. Pediatr Nephrol. 1993 Oct; 7(5):685-8.
Review Nephrogenic diabetes insipidus: clinical symptoms, pathogenesis, genetics and treatment. [Pediatr Nephrol. 1992]
Review Nephrogenic diabetes insipidus: clinical symptoms, pathogenesis, genetics and treatment.
Knoers N, Monnens LA. Pediatr Nephrol. 1992 Sep; 6(5):476-82.

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Cited by 1 PubMed Central article

Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. [Am J Hum Genet. 1994]
Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
van Lieburg AF, Verdijk MA, Knoers VV, van Essen AJ, Proesmans W, Mallmann R, Monnens LA, van Oost BA, van Os CH, Deen PM. Am J Hum Genet. 1994 Oct; 55(4):648-52.

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