Article
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD): a paradigm for activating mutations causing endocrine dysfunction.
Pediatric endocrinology reviews : PER - 1 Dec 2006
Rosenthal Stephen M, Feldman Brian J, Vargas Gabriel A, Gitelman Stephen E
Abstract excerpt
Mutations of G protein-coupled receptors are responsible for a wide range of diseases. With respect to water balance and vasopressin signaling, more than 180 different inactivating mutations have been previously described in the V2 vasopressin receptor (V2R), resulting in nephrogenic diabetes insipidus. In contrast, we have recently described the first known patients with V2R activating mutations. Patients with...
Topics
- Body Water
- Diabetes Insipidus, Nephrogenic
- Homeostasis
- Humans
- Inappropriate ADH Syndrome
- Infant
- Mutation
- Receptors, Vasopressin