Nephrogenic diabetes insipidus (NDI) is a rare disease characterized by the kidney failure to concentrate urine despite normal or increased plasma concentrations of the antidiuretic hormone arginine vasopressin (AVP). Recent advances in kidney physiopathology demonstrate that, after AVP binding to its receptor AVPR2 (vasopressin type 2 receptor), a cascade of events leads to water reabsorption in the collecting duct through channels exclusively permeable to water and localized at the apical membranes of these collecting ducts, the most important being aquaporin-2 (AQP2). The identification, characterization and mutational analysis of genes AVPR2 and AQP2 helped to establish the molecular basis of the various types of hereditary nephrogenic diabetes insipidus. Approximately 90% of patients present with mutations of AVPR2, 8% have mutations of AQP2 and the remaining do not have any identifiable causes. In this review, we present examples of such genetic alterations and suggest that the use of molecular biology techniques can minimize the complications of this heterogeneous disease that presents with similar phenotype.
Nephrogenic diabetes insipidus; Vasopressin; Aquaporin; Mutation
