Mutations in multiple PKD genes may explain early and severe polycystic kidney disease
C Bergmann, J von Bothmer, NO Brüchle… - Journal of the …, 2011 - journals.lww.com
Autosomal dominant polycystic kidney disease (ADPKD) is typically a late-onset disease
caused by mutations in PKD1 or PKD2, but about 2% of patients with ADPKD show an early
and severe phenotype that can be clinically indistinguishable from autosomal recessive
polycystic kidney disease (ARPKD). The high recurrence risk in pedigrees with early and
severe PKD strongly suggests a common familial modifying background, but the
mechanisms underlying the extensive phenotypic variability observed among affected family …
caused by mutations in PKD1 or PKD2, but about 2% of patients with ADPKD show an early
and severe phenotype that can be clinically indistinguishable from autosomal recessive
polycystic kidney disease (ARPKD). The high recurrence risk in pedigrees with early and
severe PKD strongly suggests a common familial modifying background, but the
mechanisms underlying the extensive phenotypic variability observed among affected family …