[Hereditary nephrogenic diabetes insipidus].
Congenital nephrogenic diabetes insipidus (NDI) is a rare inherited disorder characterized by the inability of the kidney to concentrate urine in response to vasopressin (AVP). Following the recent characterization of the cDNA and genomics sequences encoding the human V2 receptor to AVP (AVPR2), X-linked NDI has been found to be due to mutations in the AVPR2 gene that maps to the chromosome Xq28 region. To date more than 30 mutations, insertions or deletions have been reported in independent families, without any significant differences in the phenotypic expression of the disease. The AVPR2 is a member of the superfamily of 7 transmembrane domain, G protein-coupled receptor, linked to cyclic AMP second messenger system. Other types of inheritance have been described in NDI, and recently, a mutation of the aquaporin-2 gene, encoding a water channel of the renal collecting duct, has been reported in an autosomal recessive form of NDI.
Morin
D
D
Service de pédiatrie I, hôpital A-de-Villeneuve, CHU, Montpellier, France.
Ala
Y
Y
Dumas
R
R
D018500:Diabetes Insipidus, Nephrogenic / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D006801:Humans; D008297:Male; D017483:Receptors, Vasopressin / Q000378:metabolism
D017483:Receptors, Vasopressin
Diabète insipide néphrogénique héréditaire.