Cystic fibrosis (CF) is a genetic disease that affects the lungs and digestive system.
Children inherit CF from both parents; one copy of the defective CF gene from the mother, and one copy from the father. Children who inherit only one copy may carry the gene but will not present with the disease. CF is caused by mutations in a gene that produces a protein called CFTR, which controls the flow of salt and water in cells of certain organs, such as the lung and pancreas. CFTR causes the body to produce thick, sticky mucus that clogs the lungs, making it difficult to breathe and trapping bacteria in the airways, which can lead to serious infections. It also obstructs the pancreas and interferes with the body’s ability to break down food and absorb nutrients.
CF may be diagnosed through newborn screening, genetic testing, or a sweat test, which measures the amount of chloride produced in sweat on the skin.
Symptoms include persistent cough, frequent lung infections, wheezing, poor growth, bowel problems, and very salty-tasting skin.
Treating CF varies from person to person, but therapies usually include inhaled medicines that keep airways clean and clear, enzyme supplements to improve the body’s ability to absorb vital nutrients, and airway clearance techniques to help loosen and expel thick mucus from the lungs. Ibuprofen, azithromycin, and other medications may be recommended for certain groups of people with CF, depending on their symptoms and their unique genetic mutation.
About 30,000 people in the United States have CF, with most diagnosed in early childhood. Modern advances in how we understand and treat CF is leading to fewer hospital stays and much longer life expectancies than ever before; in fact, the life expectancy of a child with CF has doubled in the last 30 years.