Nephrogen diabetes insipidusos betegek molekuláris biológia vizsgálata.

Translated title of the contribution: Molecular biological studies on patients with nephrogenic diabetes insipidus

C. Szalai, E. Molnár, P. Sallay, A. Czinner

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Nephrogenic diabetes insipidus is a rare, mostly X-linked recessive disorder characterised by renal tubular resistance to the antidiuretic effect of arginine vasopressin. The gene responsible for the X-linked nephrogenic diabetes insipidus, the G-protein-coupled vasopressin V2-receptor, has been localised on the Xq28 region. In this study four patients were investigated with molecular genetic methods. Diagnosis was based on clinical symptoms and lack of increase of urinary osmolality after administration of the arginine vasopressin, or the synthetic vasopressin analogue DDAVP. Three different mutations (C112R, N317K, W323S) were found in three patients, while no mutation was detected in the fourth patient. Since earlier histiocytosis X has been diagnosed in this patient, this patient has probably central diabetes insipidus. Although the main symptoms of the disease can be found in all patients, there are significant differences in the seriousness of the symptoms as well as in some other symptoms. The explanations might be the different mutations in the V2-receptor gene and the various other genetic and environmental factors; these findings provide further evidence that X-linked nephrogen diabetes insipidus results from defects in the V2-receptor gene.

Translated title of the contributionMolecular biological studies on patients with nephrogenic diabetes insipidus
Original languageHungarian
Pages (from-to)883-887
Number of pages5
JournalOrvosi hetilap
Volume139
Issue number15
Publication statusPublished - Apr 12 1998

ASJC Scopus subject areas

  • Medicine(all)

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