Prevalence estimates of polycystic kidney and liver disease by population sequencing

MB Lanktree, A Haghighi, E Guiard… - Journal of the …, 2018 - journals.lww.com
Background Estimating the prevalence of autosomal dominant polycystic kidney disease
(ADPKD) is challenging because of age-dependent penetrance and incomplete clinical
ascertainment. Early studies estimated the lifetime risk of ADPKD to be about one per 1000
in the general population, whereas recent epidemiologic studies report a point prevalence of
three to five cases per 10,000 in the general population. Methods To measure the frequency
of high-confidence mutations presumed to be causative in ADPKD and autosomal dominant …