Cystic Fibrosis Pathophysiology
Cystic fibrosis is a life-threatening, genetic disease that causes persistent lung infections and progressively limits the ability to breathe. In people with CF, a defective gene causes a thick, buildup of mucus in the lungs, pancreas and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients. Cystic fibrosis is caused by defects in the cystic fibrosis gene, which codes for a protein transmembrane conductance regulator (CFTR) that functions as a chloride channel and is regulated by cyclic adenosine monophosphate (cAMP). Mutations in the CFTR gene result in abnormalities of cAMP-regulated chloride transport across epithelial cells on mucosal surfaces.
The CF Foundation has carried these goals forward and is working tirelessly to find lifesaving new therapies, and one day, a lifelong cure for all people living with this devastating disease.
There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications. The goals of treatment include: Preventing and controlling lung infections, loosening and removing mucus from the lungs, providing adequate nutrition. Antibiotics are used to treat and prevent lung infections. Bronchodilators to help keep your airways open by relaxing the muscles around your bronchial tubes, chest physical therapy, pulmonary rehabilitation, surgical and other procedures.
The incidence of CF in Sweden was calculated as 1/5600 live-births. Of the CF-population alive in 1999, 45% were > or = 18 years old. The mean annual mortality rate since 1991 was 0.9% (+/-0.4) and the median age at death 26 years (range 0-72). The incidence of CF in Sweden is low. Modern CF-care in Sweden shows good results.