title: Type of PKD1 mutation influences renal outcome in ADPKD.
abstract: 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 79 years for PKD2 carriers. Regarding the allelic effect on phenotype, in contrast to previous studies, we found that the type of PKD1 mutation, but not its position, correlated strongly with renal survival. The median age at onset of ESRD was 55 years for carriers of a truncating mutation and 67 years for carriers of a nontruncating mutation. This observation allows the integration of genic and allelic effects into a single scheme, which may have prognostic value.
authors: Nephrology Department, University Hospital, Brest, France.
authors: Emilie
authors: E
authors: Cornec-Le Gall
authors: Marie-Pierre
authors: MP
authors: Audrézet
authors: Jian-Min
authors: JM
authors: Chen
authors: Maryvonne
authors: M
authors: Hourmant
authors: Marie-Pascale
authors: MP
authors: Morin
authors: Régine
authors: R
authors: Perrichot
authors: Christophe
authors: C
authors: Charasse
authors: Bassem
authors: B
authors: Whebe
authors: Eric
authors: E
authors: Renaudineau
authors: Philippe
authors: P
authors: Jousset
authors: Marie-Paule
authors: MP
authors: Guillodo
authors: Anne
authors: A
authors: Grall-Jezequel
authors: Philippe
authors: P
authors: Saliou
authors: Claude
authors: C
authors: Férec
authors: Yannick
authors: Y
authors: Le Meur
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D005602:France / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D016891:Polycystic Kidney, Autosomal Dominant / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D011379:Prognosis; D017678:Sex Distribution; D050396:TRPP Cation Channels / Q000235:genetics*; D055815:Young Adult
chemical_list: D050396:TRPP Cation Channels