Cystic Fibrosis

Cystic fibrosis (CF) is a chronic, progressive and frequently fatal genetic disease of the body’s mucus glands that often causes severe respiratory and digestive disorder. The disease causes the body to produce an abnormally thick, sticky mucus that obstructs the pancreas, preventing enzymes from reaching the intestines to digest food. The sweat glands and the reproductive system also are usually involved.

CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). In North America, cystic fibrosis affects about 30,000 children and adults. Caucasians of Northern European ancestry have the greatest chance of being carriers of the cystic fibrosis gene.

Cystic fibrosis has a variety of symptoms including:

  • Very salty-tasting skin
  • Persistent coughing, wheezing or pneumonia
  • Excessive appetite but poor weight gain
  • Bulky stools

The sweat test is the standard diagnostic test for cystic fibrosis. This simple and painless test measures the amount of salt in the sweat. A high salt level can indicate that a person has CF.

People who carry traits for these disorders may not have symptoms. However, if both parents are carriers of the same abnormal gene, the chance of having an affected child is 1 in 4, or 25 percent, for each pregnancy. A special blood test, called a carrier test, may be able to tell if you carry such a trait.

While there are no cures for cystic fibrosis there are several treatment methods. Disease management is aimed at maximizing organ function and consists of proactive treatment of airway infection, and encouragement of good nutrition and an active lifestyle. Current treatments only delay the decline in organ function at best. Targets for therapy are the lungs, gastrointestinal tract, the reproductive organs, and psychological support.

With improved treatments, the lifespan of individuals with cystic fibrosis has increased so that on average it now is about 30 years.