Cystic Fibrosis Support Group

CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) which helps create sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one gene is needed to prevent cystic fibrosis. CF develops when neither gene works normally. The CFTR gene is therefore a recessive gene and, because both men and women can develop cystic fibrosis, CF is known as an autosomal recessive disease. The name cystic fibrosis comes from the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s.

CF is most common among Caucasians and Ashkenazi Jews; one in 25 people of European descent carry one gene for CF. Approximately 30,000 Americans have CF, making it one of the most common fatal inherited diseases. Cystic fibrosis does not currently have a cure. The lung disease is often treated with antibiotics, bronchodilators, physical therapy, nebulized saline, and medication to help break down mucus. Ultimately, lung transplantation or combined lung and pancreas transplantation may be necessary. Diabetes is treated with insulin and sinus infections require antibiotics and often surgery. Problems with digestion are overcome by replacing missing digestive enzymes, supplementing poorly absorbed vitamins, and increasing portion size.

The most consistent aspect of therapy in cystic fibrosis is limiting and treating the lung damage caused by thick mucus and infection with the goal of maintaining quality of life. Intravenous, inhaled, and oral antibiotics are used to treat chronic and acute infections. Mechanical devices and inhalational medications are used to alter and clear the thickened mucus. Other aspects of CF therapy involve treatment of diabetes with insulin, pancreatic disease with enzyme replacement, and infertility with advanced reproductive techniques. In addition, therapies such as transplantation and gene therapy aim to cure some of the effects of cystic fibrosis.