| Popis: |
Since the discovery of aquaporin water channels, insight into the molecular mechanism by which rapid osmotic water occurs across cell membranes has greatly improved. Aquaporin-2 is the vasopressin-responsive water channel in the collecting duct, and vasopressin control of water permeability in the collecting duct occurs in two ways: a short-term regulation and a long-term adaptation. In congenital nephrogenic diabetes insipidus, the kidney does not respond to vasopressin. Ninety percent of these patients carry a mutation in the gene coding for the vasopressin V2 receptor located on the X chromosome. Autosomal recessive and dominant forms of nephrogenic diabetes insipidus that are caused by mutations in the aquaporin-2 gene have now been described. This review focuses on recent insight in the molecular and cellular defect in autosomal nephrogenic diabetes insipidus. |
