Article
Functional characterization and cAMP-mediated rescue of a novel truncating AVPR2 mutation causing nephrogenic diabetes insipidus.
American journal of physiology. Endocrinology and metabolism - 1 Nov 2025
Manoel Diogo, Mohammed Idris, Hussain Khalid, Saraiva Luis R
Abstract excerpt
Vasopressin plays a central endocrine role in water homeostasis by activating the arginine vasopressin receptor 2 (AVPR2) receptor in renal collecting duct cells. Mutations in AVPR2 are a leading cause of X-linked nephrogenic diabetes insipidus (NDI), a disorder marked by renal insensitivity to vasopressin, leading to polyuria, polydipsia, and hypernatremia. We identified a novel truncating AVPR2 mutation...
Topics
- Child
- Female
- Humans
- Male
- Aquaporin 2
- Cyclic AMP
- Deamino Arginine Vasopressin
- Diabetes Insipidus, Nephrogenic
- Genetic Diseases, X-Linked
- HEK293 Cells
- Mutation
- Receptors, Vasopressin
- Signal Transduction