Refining genotype-phenotype correlation in autosomal dominant polycystic kidney disease
Renal disease variability in autosomal dominant polycystic kidney disease (ADPKD) is
strongly influenced by the gene locus (PKD1 versus PKD2). Recent studies identified
nontruncating PKD1 mutations in approximately 30% of patients who underwent
comprehensive mutation screening, but the clinical significance of these mutations is not
well defined. We examined the genotype-renal function correlation in a prospective cohort of
220 unrelated ADPKD families ascertained through probands with serum creatinine≤ 1.4 …
strongly influenced by the gene locus (PKD1 versus PKD2). Recent studies identified
nontruncating PKD1 mutations in approximately 30% of patients who underwent
comprehensive mutation screening, but the clinical significance of these mutations is not
well defined. We examined the genotype-renal function correlation in a prospective cohort of
220 unrelated ADPKD families ascertained through probands with serum creatinine≤ 1.4 …