Nephrogenic diabetes insipidus due to a novel AVPR2 mutation

J Pediatr Endocrinol Metab. 2009 Feb;22(2):187-9. doi: 10.1515/jpem.2009.22.2.187.

Abstract

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease characterized by renal tubular unresponsiveness to the antidiuretic effect of arginine-vasopressin due to the mutations of two molecules, the vasopressin V2 receptor (AVPR2) and the aquasporin-2 water channel. We report a novel AVPR2 mutation in a Turkish 18 month-old boy with skeletal anomalies.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, X / genetics
  • DNA Mutational Analysis
  • Diabetes Insipidus, Nephrogenic / congenital
  • Diabetes Insipidus, Nephrogenic / diagnosis
  • Diabetes Insipidus, Nephrogenic / genetics*
  • Female
  • Genes, Recessive
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Mothers
  • Pedigree
  • Radiography
  • Receptors, Vasopressin / genetics*
  • Scoliosis / congenital
  • Scoliosis / diagnostic imaging
  • Scoliosis / genetics

Substances

  • Receptors, Vasopressin