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Patients with cystic fibrosis (CF), an autosomal recessive disease, have excess risk for developing pulmonary, pancreatic, and other pathologic conditions. Might heterozygotes (CF carriers) also be at risk for these outcomes?
Investigators identified 20,000 CF carriers and 24,000 people with CF (homozygotes) and matched 5 non–CF-carrying controls to each carrier and case. Carriers and cases were each compared with their controls to determine the frequency of 59 conditions for which people with CF are thought to be at risk. As expected, people with CF were at significantly greater risk than were controls for 57 of those 59 conditions. Surprisingly, CF carriers also were at significantly greater risk for most of those conditions — although car…