Type of PKD1 mutation influences renal outcome in ADPKD

E Cornec-Le Gall, MP Audrézet, JM Chen… - Journal of the …, 2013 - journals.lww.com
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 that associated
with PKD1 mutations. The median age at onset of ESRD was 58 years for PKD1 carriers and …