Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder that particularly affects the lungs and digestive system and makes kids who have it more vulnerable to repeated lung infections. Now, thanks to high-tech medical advances in drug therapy and genetics, children born with CF can look forward to longer and more comfortable lives. In the last 10 years, research into all aspects of CF has helped doctors to understand the illness better and to develop new therapies. Ongoing research may someday lead to a cure.

Currently affecting more than 30,000 children and young adults in the United States, cystic fibrosis makes kids sick by disrupting the normal function of epithelial cells — cells that make up the sweat glands in the skin and that also line passageways inside the lungs, liver, pancreas, and digestive and reproductive systems.

The inherited CF gene directs the body's epithelial cells to produce a defective form of a protein called CFTR (or cystic fibrosis transmembrane conductance regulator) found in cells that line the lungs, digestive tract, sweat glands, and genitourinary system. When the CFTR protein is defective, epithelial cells can't regulate the way chloride (part of the salt called sodium chloride) passes across cell membranes. This disrupts the essential balance of salt and water needed to maintain a normal thin coating of fluid and mucus inside the lungs, pancreas, and passageways in other organs. The mucus becomes thick, sticky, and hard to move.

Normally, mucus in the lungs traps germs, which are then cleared out of the lungs. But in CF, the thick, sticky mucus and the germs it has trapped remain in the lungs, which become infected.

In the pancreas, thick mucus blocks the channels that would normally carry important enzymes to the intestines to digest foods. When this happens, the body can't process or absorb nutrients properly, especially fats. Kids with CF have problems gaining weight, even with a normal diet and a good appetite.

MedlinePlus
Mayo Clinic
Cycstic Fibrosis Foundation