CF is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, found at the q31.2 locus of chromosome 7. The CFTR gene produces a chloride ion channel important in creating sweat, digestive juices, and the mucus glands of the lungs, liver, pancreas, and intestines. CF develops when neither allele can produce a functional CFTR protein. CF is an autosomal recessive disease.
- Affects approximately 1 in 3,900 individuals
- It is most common among Europeans and Ashkenazi Jews; 1 in 25 people of European descent are carriers of CF
- Thick mucus production results in frequent lung infections, incessant coughing, over-excessive production of phlegm, and decreased ability to exercise
- In later stages of CF, changes in the construction of the lung lead to chronic difficulties in breathing
- Diminished secretion of pancreatic enzymes is the main cause of poor growth, fatty diarrhea and deficiency in fat-soluble vitamins
- Up to 82% of patients with CBAVD have at least one detectable CF mutation
- Coughing up blood (hemoptysis), changes in the major airways in the lungs (bronchiectasis), high blood pressure in the lung (pulmonary hypertension), heart failure, difficulties getting enough oxygen to the body (hypoxia) and respiratory failure are also common among individuals with Cystic Fibrosis
There is no cure for CF, and most individuals with cystic fibrosis die young: many in their 20s and 30s from lung failure. However, with the continuous introduction of many new encouraging treatments, the life expectancy of a person with CF has increased to the fourth or fifth decade of life. Current treatments target the improvement of nutrition by providing supplements containing enzymes to help digestion, and the reduction of chest infections with frequent physiotherapy augmented with either occasional or continuous antibiotic therapy.