Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease
R Magistroni, N He, K Wang, R Andrew… - Journal of the …, 2003 - journals.lww.com
Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder
that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2,
account for the disease in approximately 80 to 85% and 10 to 15% of the cases,
respectively. Significant interfamilial and intrafamilial renal disease variability in ADPKD has
been well documented. Locus heterogeneity is a major determinant for interfamilial disease
variability (ie, patients from PKD1-linked families have a significantly earlier onset of ESRD …
that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2,
account for the disease in approximately 80 to 85% and 10 to 15% of the cases,
respectively. Significant interfamilial and intrafamilial renal disease variability in ADPKD has
been well documented. Locus heterogeneity is a major determinant for interfamilial disease
variability (ie, patients from PKD1-linked families have a significantly earlier onset of ESRD …