What is Cystic Fibrosis
Cystic fibrosis is a severe genetic disease that causes lung infections and limits the ability to breathe over time and can keep the body from absorbing food.
More Information About Cystic Fibrosis
Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene codes for the CFTR protein. When the protein is not working correctly, it’s unable to help move chloride — a component of salt — to the cell surface. Without the chloride to attract water to the cell surface, mucus in various organs, such as the lungs and pancreas, becomes thick and sticky.
In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. For this reason, avoiding germs is a top concern for people with CF. In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients, resulting in malnutrition and poor growth.
In the United States, cystic fibrosis affects one of every 3,900 live births. Although there has been significant progress in treating this disease, there is still no cure.
Newborn screening is a public health program that screens infants shortly after birth for serious conditions that are not obvious at birth. When identified early, treatment can be started before some of the harmful effects happen. All 50 states and the District of Columbia screen newborns for CF. Screening is not diagnostic, however, infants who are found to be at high risk for cystic fibrosis are referred for further confirmatory testing.
Additional information Cystic Fibrosis, its management, and information about Krabbe disease clinical trials can be found by following the links below: