Prenatal Diagnosis

Cystic Fibrosis

Signs and Symptoms
Diagnosis
Treatment

Signs and Symptoms

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. In the United States, it affects about 30,000 children and adults. 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.

Caucasians of Northern European ancestry have the greatest chance of being carriers of the cystic fibrosis gene. With improved treatments, the lifespan of individuals with cystic fibrosis has increased so that on average it now is about 30 years.

Cystic fibrosis has a variety of symptoms including very salty-tasting skin; persistent coughing, wheezing or pneumonia; excessive appetite but poor weight gain; and 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.

Reviewed by health care specialists at UCSF Children's Hospital.
Last updated May 8, 2007