Patient Information: Childhood Illnesses

What You Should Know About

Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disease affecting approximately 30,000 children and adults in theUnited States. CF is one of the most common inherited disorders in Caucasians (whites). The disease occurs less often in Blacks, and is rare in Asians and Native Americans. In the U.S., about 1 in every 31 Americans or one in 28 Caucasians (roughly twelve million Americans) carry the gene for CF. These gene carriers show no physical signs of the disease. A child is born with the disease only when both parents carry the CF gene and pass it along to the infant. There are about 30,000 people living with cystic fibrosis in the U.S. today.

CF causes the body to produce an abnormally sticky mucus that plugs up the body's ducts and other passageways. The sweat glands and the glandular cells of the lungs and pancreas are most often affected, but the sinuses, liver, intestines and reproductive organs also can be involved. When thick mucus clogs the respiratory system, bacteria and other microorganisms grow and impair the body's natural defenses. When the thick CF mucus obstructs the pancreas, preventing enzymes from reaching the intestines to help break down and digest food. The sweat glands produce abnormal amount of chloride to appear in sweat.

CF has a variety of symptoms that vary in severity. Though usually diagnosed in infancy, the disease occasionally remains undetected into later childhood and adulthood.

Common cystic fibrosis symptoms include:

Persistent cough sometimes produces mucus
Recurrent wheezing and/or breathing difficulty
Recurrent pneumonia
Frequent sinus and respiratory infections
Frequent foul-smelling, bulky stools and chronic diarrhea
Good appetite but poor body growth and weight gain
Nasal polyps (bumps inside the nose)
Enlarged fingertips (clubbing)
Skin that is salty to the taste
Sterility in males

Because the sweat glands produce too much chloride, CF can be diagnosed using the "sweat test," an analysis of high chloride levels in a person's sweat.

Treatments

At the Tucson Cystic Fibrosis Center, a CF Foundation-supported care center at the University of Arizona and Arizona Respiratory Center, specialized treatments are available to address these problems. The treatment of CF depends on the severity of the illness and which organs are involved. The goals of treatment are to reduce secretions from the lungs, replace missing or insufficient digestive enzymes, reduce or replace salt loss, and vigorously treat the lung infections that occur frequently in these children.

CF's severity can be controlled by:

Pancreatic enzymes (assist in proper food digestion)
Chest physical therapy (vigorous percussion on the back and chest to dislodge the thick mucus from the lungs)
Aerosols (inhaled medications to open up clogged airways)
Antibiotics (to treat lung infections)
Exercise (strengthens breathing and cardiovascular function, dislodges mucus)
Proper nutrition (increased caloric intake to maintain body growth and health)
Vitamins (prevent vitamin deficiencies)
Pulmozyme or Dornase alpha (inhaled medication used to make mucus less sticky in the lungs)
Ibuprofen (anti-inflammatory medication which reduces the rate of lung inflammation in high doses)
Tobramycin solution or TOBI^TM (Inhaled antibiotic medication which helps fight lung infections

Sweat Test

The sweat test has been the gold standard for diagnosing cystic fibrosis (CF) for more than 40 years.

When it is performed by trained technicians, and evaluated in an experienced, reliable laboratory such as the Tucson cystic fibrosis center, a CF Foundation-supported care center at the University of Arizona and Arizona Respiratory Center, the sweat test is still the best test to diagnose CF. The test can be performed on a person of any age; however, some infants may not make enough sweat for the laboratory to perform the test. If an infant does not produce enough sweat for a sweat test, it should be repeated.

The sweat test is a simple, painless diagnostic procedure that determines the amount of salt in the sweat. In the first part of the test, a colorless, odorless chemical, known to cause sweating, is applied to a small area on the arm or leg. An electrode is then attached to stimulate a weak electrical current to the area. Often people may feel a tingling sensation in the area, or a feeling of warmth in this area during the test. This part of the procedure lasts approximately five minutes. The second part of the test consists of cleaning the stimulated area and collecting the sweat on a piece of filter paper or in a plastic coil. Often children are able to walk and play during this part of the test. Thirty minutes later, the collected sweat is sent to a hospital laboratory for analysis. The entire test takes approximately one hour.

Physicians request this test be performed when they wish to rule out the presence of CF. This can be done since most children and adults with CF have an increased amount salt in their sweat. In individuals who have CF, the sweat chloride test will be abnormal from birth. Rarely, the test results fall into "borderline" range between normal and abnormal. In these situations, repeat sweat tests, as well as other diagnostic procedures, may need to be carried out. These will only be done after consultation with a physician.

Coping with CF

Because CF is a hereditary disease, many parents feel very guilty about their child's illness and often feel grieve at the loss of their hope for a healthy child. The disease is not the parent's fault. In fact, all of us carry genes for a variety of different types of diseases. Instead, parents and families should be encouraged to channel their emotional energies into their child's treatment.

It is also important to raise a child with CF as you would a person without this disease. Many CF patients grow up to lead productive adult lives so there is no reason to limit their educational or career goals. As any child, a child with CF needs both love and discipline and should be encouraged to set high goals and reach them.

There are many support groups and information available at the Cystic Fibrosis Foundation website listed below or you can write to: Cystic Fibrosis Foundation, 6931 Arlington Road, Bethesda, MD 20814.

Where to Get More Information

For more information, try these online resources.

Arizona Respiratory Center . Administrative Office 1501 N. Campbell Ave.,Suite 2349 . PO Box 245030 Tucson, AZ 85724-5030 Phone: (520) 626-6387 Email:webmaster@arc.arizona.edu
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