title: [Vasopressin V2 receptor-related pathologies: congenital nephrogenic diabetes insipidus and nephrogenic syndrome of inappropiate antidiuresis].
abstract: Congenital nephrogenic diabetes insipidus is a rare hereditary disease with mainly an X-linked inheritance (90% of the cases) but there are also autosomal recessive and dominant forms. Congenital nephrogenic diabetes insipidus is characterized by a resistance of the renal collecting duct to the action of the arginine vasopressin hormone responsible for the inability of the kidney to concentrate urine. The X-linked form is due to inactivating mutations of the vasopressin 2 receptor gene leading to a loss of function of the mutated receptors. Affected males are often symptomatic in the neonatal period with a lack of weight gain, dehydration and hypernatremia but mild phenotypes may also occur. Females carrying the mutation may be asymptomatic but, sometimes, severe polyuria is found due to the random X chromosome inactivation. The autosomal recessive and dominant forms, occurring in both genders, are linked to mutations in the aquaporin-2 gene. The treatment remains difficult, especially in infants, and is based on a low osmotic diet with increased water intake and the use of thiazides and indomethacin. The main goal is to avoid hypernatremic episodes and maintain a good hydration state. Potentially, specific treatment, in some cases of X-linked congenital nephrogenic diabetes insipidus, with pharmacological chaperones such as non-peptide vasopressin-2 receptor antagonists will be available in the future. Conversely, the nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is linked to a constitutive activation of the V(2)-receptor due to activating mutations with clinical and biological features of inappropriate antidiuresis but with low or undetectable plasma arginine vasopressin hormone levels.
authors.affiliation: Département de pédiatrie, hôpital Arnaud-de-Villeneuve, CHU de Montpellier, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France; Centre de référence des maladies rares du Sud-Ouest, 371, avenue du Doyen-Gaston-Giraud, 34295 Montpellier cedex 5, France; CNRS UMR 5203, Inserm U661, 141, rue de la Cardonille, 34094 Montpellier cedex 5, France; Université Montpellier I, 34295 Montpellier cedex 5, France. Electronic address: d-morin@chu-montpellier.fr.
authors.forename: Denis
authors.initials: D
authors.lastname: Morin
mesh_terms: D051399:Aquaporin 2 / Q000235:genetics; D018500:Diabetes Insipidus, Nephrogenic / Q000151:congenital / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007177:Inappropriate ADH Syndrome / Q000235:genetics*; D009154:Mutation; D017483:Receptors, Vasopressin / Q000235:genetics*
chemical_list: D051399:Aquaporin 2; D017483:Receptors, Vasopressin
keywords: Aquaporin-2; Canal à eau aquaporine-2; Congenital nephrogenic diabetes insipidus; Diabète insipide néphrogénique congénital; Hypernatremia; Hypernatrémie; Nephrogenic syndrome of inappropriate antidiuresis; Récepteur V(2) de la vasopressine; Syndrome d’antidiurèse inappropriée néphrogénique; Vasopressin V2 receptor