Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions.
The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with antibiotics and other medications. Other symptoms, including sinus infections, poor growth, and infertility affect other parts of the body.
CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This protein is required to regulate the components of sweat, digestive juices, and mucus. CFTR regulates the movement of chloride and sodium ions across epithelial membranes, such as the alveolar epithelia located in the lungs. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis due to the disorder’s recessive nature. CF develops when neither gene works normally (as a result of mutation) and therefore has autosomal recessive inheritance.
CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF. The World Health Organization states that “In the European Union, 1 in 2000-3000 newborns is found to be affected by CF”. Individuals with cystic fibrosis can be diagnosed before birth by genetic testing, or by a sweat test in early childhood. Lung transplantation is often necessary as CF worsens.