Type of PKD1 Mutation Influences Renal Outcome in ADPKD

Overview

Journal J Am Soc Nephrol

Specialty Nephrology

Date 2013 Feb 23

PMID 23431072

Citations 240

Authors

Emilie Cornec-Le Gall

Marie-Pierre Audrezet

Jian-Min Chen

Maryvonne Hourmant

Marie-Pascale Morin

Regine Perrichot

Christophe Charasse

Bassem Whebe

Eric Renaudineau

Philippe Jousset

Marie-Paule Guillodo

Anne Grall-Jezequel

Philippe Saliou

Claude Ferec

Yannick Le Meur

Affiliations

Soon will be listed here.

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.

Citing Articles

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