Cystic Fibrosis

Cystic fibrosis is one of the most common fatal genetic disorders in the United States, affecting about 30,000 individuals. A comparable number of people in Europe also have CF. It is most prevalent in the Caucasian population, occurring in one of every 3,300 live births. The gene involved in cystic fibrosis was identified in 1989. Located on human chromosome 7, it codes for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). This protein, normally produced in a number of tissues throughout the body, regulates the movement of salt and water in and out of these cells. The abnormality in the CFTR gene alters the CFTR protein in people with cystic fibrosis. As a result, one hallmark of CF is the presence of a thick mucus secretion which clogs the bronchial tubes in the lungs and plugs the exit passages from pancreas and intestines, leading to loss of function of these organs. Progressive lung disease is the predominant cause of illness and death in people with CF. Mucus blocks the airway passages and results in a predisposition toward chronic bacterial infections.

While the most common bacterium to infect the CF lung is Pseudomonas aeruginosa, individuals may also be infected by members of the Burkholderia cepacia complex (Bcc), including B. cenocepacia and B. multivorans. Bcc strains can be isolated from diverse ecological niches including soil and rivers, and passed between cystic fibrosis patients. Infection with one of these strains is often associated with a marked clinical decline and increase risk of mortality. In a minority of cases, individuals may develop 'cepacia syndrome', a highly fatal condition characterized by the invasion of respiratory epithelial cells and sepsis. Individuals with this condition succumb rapidly to a pulmonary illness with high temperatures and respiratory failure.

For more information on Burkholderia cepacia complex infections and CF, please visit the Canadian Cystic Fibrosis Foundation or the United States Cystic Fibrosis Foundation

For more general information on CF, please see the Cystic Fibrosis Foundation Therapeutics (CFFT) website. CFFT is the major source of funding for this database.