Cystic fibrosis (CF) is a life-threatening genetic disorder that affects approximately 35,000 children and adults in the United States and nearly 100,000 people worldwide. It is a genetic disease caused by an abnormal gene that affects the lungs, the pancreas and other organs like the digestive system. In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride and as a result mucus in various organs becomes thick and sticky. In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. In the pancreas, dysfunction prevents the release of digestive enzymes that help the body absorb food and key nutrients, resulting in malnutrition and poor growth.
Bronchiectasis and malabsorption develop early in the course of CF with exocrine pancreatic insufficiency (EPI) occurring at birth in most patients, and bronchiectasis being detectible as early as 10 weeks. Despite treatments for the underlying disease, many people with CF continue to need treatments for disease manifestations, such as infections and nutrition.
When a group of parents started the Cystic Fibrosis Foundation in 1955, there were no treatments for cystic fibrosis. The CF Foundation’s steadfast commitment to advancing CF research has helped enable more than a dozen new treatments for the disease and we at Synspira have been a part of this through our long-term collaborations with the CFF.
Cystic Fibrosis (CF) Carriers: Increase in Bronchiectasis and Malabsorption
To have cystic fibrosis, a person must inherit one copy of the CFTR gene mutation from each parent. People who have only one copy of a CFTR gene mutation are called “CF carriers.” CF carriers are at increased risk for a wide range of cystic fibrosis-related conditions including bronchiectasis and malabsorption. There are approximately 10 million CF carriers in the United States.