Article
Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.
Kidney international - 1 Nov 2015
Erdélyi László S, Mann W Alexander, Morris-Rosendahl Deborah J, Groß Ute, Nagel Mato, Várnai Péter, Balla András, Hunyady László
Abstract excerpt
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a recently discovered rare disease caused by gain-of-function mutations of the V2 vasopressin receptor gene, AVPR2. To date, mutations of Phe229 and Arg137 have been identified as gain-of-function in the V2 vasopressin receptor (V2R). These receptor mutations lead to hyponatremia, which may lead to clinical symptoms in infants. Here we present a newly...
Topics
- Adult
- Antidiuretic Hormone Receptor Antagonists
- Arrestins
- Benzazepines
- Cell Membrane
- Cyclic AMP
- DNA Mutational Analysis
- Dynamins
- Endocytosis
- Exons
- Female