Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease

M Gunay-Aygun, BI Turkbey, J Bryant… - Molecular genetics and …, 2011 - Elsevier
Autosomal recessive polycystic kidney disease (ARPKD), characterized by progressive
cystic degeneration of the kidneys and congenital hepatic fibrosis (CHF), is the most
common childhood onset ciliopathy, with an estimated frequency of 1 in 20,000 births. It is
caused by mutations in PKHD1. The carrier frequency for ARPKD in the general population
is estimated at 1 in 70. Given the recessive inheritance pattern, individuals who are
heterozygous for PKHD1 mutations are not expected to have clinical findings. We performed …