Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

Abstract

It is now clear that mutations of at least two genetic loci can lead to autosomal dominant polycystic kidney disease (ADPKD). We have compared the clinical features of ADPKD caused by mutations at the PKD1 locus (linked to the α-globin complex on chromosome 16) with those of disease not linked to the locus (non-PKD1). We identified 18 families (285 affected members) with mutations at PKD1 and 5 families (49 affected individuals) in which involvement of this locus could be dismissed. Non-PKD1 patients lived longer than PKD1 patients (median survival 71·5 vs 56·0 years), had a lower risk of progressing to renal failure (odds ratio 0·35, 95% Cl 0·13-0·92), were less likely to have hypertension ..