Clinical Phenotypes of Cystic Fibrosis Carriers

Abstract

Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in CFTR, the cystic fibrosis transmembrane conductance regulator gene. People with CF experience a wide variety of medical conditions that affect the pulmonary, endocrine, gastrointestinal, pancreatic, biliary, and reproductive systems. Traditionally, CF carriers, with one defective copy of CFTR, were not thought to be at risk for CF-associated diseases. However, an emerging body of literature suggests that heterozygotes are at increased risk for many of the same conditions as homozygotes. For example, heterozygotes appear to be at increased risk for chronic pancreatitis, atypical mycobacterial infections, and bronchiectasis. In the United States alone, there are almost 10 million CF carriers. Universal newborn screening and prenatal genetic screening will identify more. Thus, there is a critical need to develop more precise estimates of health risks attributable to the CF carrier state across the lifespan.

Keywords: CFTR; carrier; cystic fibrosis.

Figure 1.

CF-related conditions for which CF carriers may be at increased risk. The figure summarizes results from Reference 4. Abbreviations: CF, cystic fibrosis; GI, gastrointestinal.

Figure 2.

Factors potentially modifying cystic fibrosis (CF) carrier phenotypes.