CFTR-related conditions are a group of disorders that cause the production of abnormally thick and sticky mucus in the lungs and digestive system, resulting in breathing problems, an increased risk for lung infections, and lung damage.
More severe forms also cause problems with the pancreas. Other symptoms include sinusitis, bronchitis, and male infertility. Symptoms can begin at birth and vary from person to person, even within the same family. Some individuals can also be asymptomatic.
CFTR-related conditions are caused by pathogenic (disease-causing) variants in the CFTR gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. Individuals of Ashkenazi Jewish descent have a 1 in 29 chance of being carriers of CFTR-related conditions.
Carriers of these conditions may have a slightly increased risk for chronic pancreatitis in their lifetime (overall, less than 1% chance). However, most carriers do not experience any symptoms related to the condition. If you are found to be a carrier, a genetic counselor can talk to you in more detail about this risk and what it means.
One of the conditions in this group is cystic fibrosis.
- Cystic Fibrosis Foundation
- NHLBI/NIH Cystic Fibrosis
- Genetic and Rare Diseases Information Center (GARD)
Revised June 2022