Variation in age at ESRD in autosomal dominant polycystic kidney disease.

ABSTRACT:

Background

Heterogeneity manifest as more severe disease in successive generations has been attributed to genetic anticipation in patients with autosomal dominant polycystic kidney disease (ADPKD). We evaluated variation in age at end-stage renal disease (ESRD) in ADPKD families for evidence of anticipation.

Study design

Retrospective.

Setting & participants

413 families with ADPKD seen at our single center between 1985 and 2004 (including 95 families with documented polycystic disease type 1 [PKD1] and 213 ADPKD families with parents born before 1930).

Predictor

Generational status.

Outcome

Age at ESRD onset.

Measurements

Time to ESRD was evaluated by using survival analysis, Cox regression, and descriptive statistics. Unstable trinucleotide repe

SUBMITTER: Reed BY 

PROVIDER: S-EPMC2747334 | biostudies-literature | 2008 Feb

REPOSITORIES: biostudies-literature