Cystic Fibrosis

What is cystic fibrosis?

Cystic fibrosis (CF) is a birth defect that causes the body to produce thick, sticky mucus. Usually, mucus is thin and slippery. In cystic fibrosis, the thick mucus causes lung infections and blocks the lungs. This is especially dangerous if it blocks airways and breathing stops. These thick secretions may block the pancreas, which helps the intestines to break down and absorb food. The mucus also can block the bile duct in the liver and cause permanent liver damage over time.

CF can affect all races and ethnic groups, but occurs mostly in whites. It affects people in different ways and by varying degrees.

How does it occur?

CF is caused by defective genes that are passed from parent to child. A child must inherit a defective CF gene from each parent to have CF. If the child only gets one CF gene, he or she is a carrier of the disease, but does not have it. If both parents come from families with cystic fibrosis, there is a 25 percent chance that each child they have will have CF.

What are the symptoms?

Newborns with cystic fibrosis may develop a blocked intestine the first day or two after birth. Other signs in newborns include failure to grow, bulky foul-smelling greasy stools, and frequent respiratory infections.

Common symptoms of cystic fibrosis in children and young adults include:

salty skin
blockage in the bowels
foul-smelling greasy stools
thick saliva
chronic coughing or wheezing
frequent chest and sinus infections
growths in the nose.

Additional signs may include delayed growth, enlargement or rounding of the fingertips and toes, liver problems, on-going diarrhea, abdominal swelling, part of the rectum coming out of the anus, or a collapsed lung.

How is it diagnosed?

CF is usually diagnosed by age 3, but it can be much later for those who have a mild case. A test called a sweat test is used to diagnose CF. The sweat test measures the amount of salt in your child's sweat. People with CF have a high level of salt in their sweat. To do the test, a special chemical is put on part of the skin to help make your child sweat. An electrode is put on the area and weak electrical current causes the area to sweat. The sweat is collected and tested in a lab. The test does not hurt.

How is it treated?

There is no cure for cystic fibrosis. The goal of treatment is to help your child lead as normal a life as possible and slow down the progress of the disease. The average lifespan for someone with CF is about 37 years. Treatment for CF may include taking medicine such as:

oral antibiotics to prevent lung infections
bronchodilators, which are drugs that open the airways
mucus-thinning medicine
special vitamins
pancreatic enzymes, which help the intestines digest food.

Your child may also need to eat more calories to help fight infection. For a baby this may mean making high-calorie breast milk or formula. For a toddler or older child, you will need to add extra calories during the day. Using more dairy products is an easy way to add calories (for example, you can give your child whole milk, use extra butter on foods, or add extra cheese to pizza or casseroles). You will also need to learn chest physical therapy (CPT). CPT helps drain your child's airways by tapping on your child's chest or back. You will need to do this at least twice a day.

Your child may also need to:

Exercise to help loosen mucus and make the heart and lungs stronger.
Avoid any kind of smoke. Second-hand smoke is extremely harmful to people with cystic fibrosis.
Drink plenty of fluids to help to loosen mucus.
Wash hands frequently to prevent getting an infection.

For more information about CF, contact:

The Cystic Fibrosis Foundation
Web Site: http://www.cff.org

The National Heart, Lung, and Blood Institute
Web Site: http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_what.html