Cystic Fibrosis

What is cystic fibrosis?

Cystic fibrosis is a birth defect. Normally, the mucus in the lungs is thin and slippery. In cystic fibrosis, the mucus is thick and sticky and causes infections and blocks the lungs. This is especially dangerous if it blocks airways and stops breathing. These thick secretions also block the pancreas. The pancreas helps the intestines digest and absorb food. The mucus also can block the bile duct in the liver, causing liver damage over time.

Cystic fibrosis can affect all races and ethnic groups, but occurs mostly in whites. It affects people in different ways and to different 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 have the cystic fibrosis gene, there is a 25% 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
• poor growth or poor weight gain
• 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?

Babies are tested for cystic fibrosis as part of newborn screening blood tests. Even though most newborn screens that suggest CF are false positive tests, a positive on this test means a higher chance that your child has the disease. CF is usually diagnosed by age 3, but it can be diagnosed much later in those who have a mild case.

If your child's newborn screen suggests that he or she may have CF, your child should have a sweat test. 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 slow down the progress of the disease and help your child lead as normal a life as possible. 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.
• If your child is sweating a lot, such as during hot weather, drinking a sports drink provides both fluids and salt.
• Wash hands often to help prevent infections.
• Make sure that your child is up to date with vaccines such as flu and pneumonia to help prevent infections.

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