Article
Type of PKD1 mutation influences renal outcome in ADPKD.
Journal of the American Society of Nephrology : JASN - 1 May 2013
Cornec-Le Gall Emilie, Audrézet Marie-Pierre, Chen Jian-Min, Hourmant Maryvonne, Morin Marie-Pascale, Perrichot Régine, Charasse Christophe, Whebe Bassem, Renaudineau Eric, Jousset Philippe, Guillodo Marie-Paule, Grall-Jezequel Anne, Saliou Philippe, Férec Claude, Le Meur Yannick
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is heterogeneous with regard to genic and allelic heterogeneity, as well as phenotypic variability. The genotype-phenotype relationship in ADPKD is not completely understood. Here, we studied 741 patients with ADPKD from 519 pedigrees in the Genkyst cohort and confirmed that renal survival associated with PKD2 mutations was approximately 20 years longer than...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Aged, 80 and over
- Child
- Child, Preschool
- Cohort Studies
- Female
- France
- Genotype
- Humans
- Kaplan-Meier Estimate