Aquaporin 2 Mutations in Nephrogenic Diabetes Insipidus
| Autor: | Anne J.M. Loonen, Nine V A M Knoers, Peter M.T. Deen, Carel H. van Os |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Vasopressin
medicine.medical_specialty Health aging / healthy living [IGMD 5] 030232 urology & nephrology Membrane transport and intracellular motility [NCMLS 5] Diabetes Insipidus Nephrogenic Genes Recessive urologic and male genital diseases Mice Metabolism transport and motion [NCMLS 2] 03 medical and health sciences 0302 clinical medicine Arginine vasopressin receptor 2 Internal medicine medicine Animals Humans Genes Dominant Renal disorder [IGMD 9] 030304 developmental biology Vasopressin receptor 0303 health sciences Aquaporin 2 urogenital system business.industry Reabsorption Apical membrane medicine.disease Nephrogenic diabetes insipidus Renal disorders [UMCN 5.4] Disease Models Animal Endocrinology Genetic defects of metabolism [UMCN 5.1] Nephrology Mutation Diabetes insipidus business hormones hormone substitutes and hormone antagonists |
| Zdroj: | Seminars in Nephrology, 28, 252-65 Seminars in Nephrology; Vol 28 Seminars in Nephrology, 28, 3, pp. 252-65 Seminars in Nephrology |
| ISSN: | 0270-9295 |
| DOI: | 10.1016/j.semnephrol.2008.03.006 |
| Popis: | Item does not contain fulltext Water reabsorption in the renal collecting duct is regulated by the antidiuretic hormone vasopressin (AVP). When the vasopressin V2 receptor, present on the basolateral site of the renal principal cell, becomes activated by AVP, aquaporin-2 (AQP2) water channels will be inserted in the apical membrane, and in this fashion, water can be reabsorbed from the pro-urine into the interstitium. The essential role of the vasopressin V2 receptor and AQP2 in the maintenance of body water homeostasis became clear when it was shown that mutations in their genes cause nephrogenic diabetes insipidus, a disorder in which the kidney is unable to concentrate urine in response to AVP. This review describes the current knowledge on AQP2 mutations in nephrogenic diabetes insipidus. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|