1999 European Regional Conference Proceeding
May 12 - 16, 1999
|Conference:||1999 European Regional Conference|
|Title:||Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus|
|Authors:||Vargas-Poussou, Rosa; Forestier, Lionel; Dautzenberg, Marie Dominique; Niaudet, Patrick; Dechaux, Michele; Antignac, Corinne|
|Institutions:||Hopital Necker-Enfants Malades Tour Lavoisier, Hopital Necker Enfants Malades Tour Lavoisier, Institut National de la Sante' et de la Recherche Medicale, INSERM|
Vargas-Poussou, et al., analyzed 16 congenital nephrogenic diabetes insipidus (CNDI) patients for mutations of either the vasopressin-2 (AVPR2) gene or the aquaporin-2 (AQP2) gene. The researchers identified 11 AVPR2 gene mutations, seven of which had been previously reported in the literature and four of which had not. Three AQP2 mutations were identified, two of which were found in the same NDI patient.
By administering a synthetically modified form of vasopressin called dDAVP, the researchers were able to distinguish the AVPR2- and AQP2-associated forms of CNDI in three patients. This test also identified a patient with a mild form of CNDI who had an unexpectedly high level of urine concentration.