Article
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.
Journal of the American Society of Nephrology : JASN - 1 Dec 1997
Vargas-Poussou R, Forestier L, Dautzenberg M D, Niaudet P, Déchaux M, Antignac C
Abstract excerpt
Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by renal tubular insensitivity to the antidiuretic effect of arginine vasopressin (AVP). In a large majority of the cases, nephrogenic diabetes insipidus is an X-linked recessive disorder caused by mutatio...
Topics
- Adult
- Aquaporin 2
- Aquaporin 6
- Aquaporins
- Child
- Chromosomes, Human, Pair 12
- Consanguinity
- DNA Mutational Analysis
- Deamino Arginine Vasopressin
- Diabetes Insipidus, Nephrogenic
- Female
- Frameshift Mutation
- Genes
- Genetic Heterogeneity
- Genotype
- Humans
- Ion Channels
- Kidney Tubules, Collecting