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Understanding Cystic Fibrosis
the Basics | Symptoms | Treatment
Treatment
How Do I Know If I Have It?
Cystic Fibrosis may be suspected in a child who shows poor growth, has repeated respiratory or sinus infections, or both. The standard diagnostic test for cystic fibrosis is the quantitative sweat chloride test, or "sweat test," which measures the amount of salt in the sweat.
The sweat test can be difficult to administer to newborns because they do not have active sweat glands. For newborns, an immunoreactive trypsinogen test (IRT) may be used instead. This test involves drawing blood and analyzing it for a specific protein called trypsinogen. A positive IRT may be confirmed at a later date with the sweat test.
Other tools that help with diagnosis include chest X-rays, which may reveal characteristic respiratory complications, and lung function tests, which may indicate abnormal airway function. Analysis of stool samples may reveal digestive problems.
Detection of cystic fibrosis in a fetus is possible through genetic testing. The National Institutes of Health recommends that genetic testing for cystic fibrosis be offered to all expectant couples or those still planning a pregnancy, especially if they have a family history of the disease.
What Are the Treatments?
Children with cystic fibrosis are living longer today, largely because of advances in antibiotic treatment and improved nutritional management. Treatment focuses on both the respiratory and digestive components of the disease.
Management of Respiratory Problems
The focus of respiratory management is prevention of infection. Daily chest physiotherapy (CPT), also known as percussion and postural drainage, helps to loosen lung secretions and stimulate coughing. To perform CPT, the person is put into a position that helps drainage, and then all areas of the lungs are "percussed" by clapping on the person's back with a cupped hand. Family members can perform CPT on small children, while older children and young adults can learn to do it themselves. CPT is usually performed twice a day, though it may be done more frequently when the person has an active lung infection. New mechanical treatments involving electronically vibrating vests are also being tried.
Regular exercise also helps to loosen and move secretions and maintain lung and heart fitness.
Antibiotics are crucial to treating cystic fibrosis lung infections. These may be administered in a vein, orally, or in an aerosol mist that is inhaled.
In 1993, researchers developed a mucus-thinning drug called Pulmozyme, the first new drug treatment specifically for cystic fibrosis in 30 years. In tests, Pulmozyme cut the number of respiratory infections and increased lung function. In late 1997, the FDA approved the use of an inhaled antibiotic called TOBI. The benefits of TOBI are that it gets directly to the site of a lung infection. Its development is expected to lead to more aerosol antibiotics for people with cystic fibrosis.
Management of Digestive Problems
People with cystic fibrosis must eat a well-balanced, high-calorie, high-protein diet. Their reduced absorption of nutrients often means that as children, they must consume up to 150% of the recommended daily allowances to meet their growth needs. Multivitamins and supplements of the fat-soluble vitamins (vitamins A, D, E and K) are also important. To enhance digestion, people need to take supplemental pancreatic enzymes before every meal and snack and extra enzymes to help digest high-fat foods. Those with severe digestive impairment may require supplemental feedings either with a feeding tube or by vein.
Gene Therapy
Gene therapy offers the best hope for a lifesaving treatment that attacks the cause of cystic fibrosis, rather than just treating the symptoms. Since 1989, when the defective cystic fibrosis gene was discovered, researchers have learned how to make copies of the normal gene and use it to correct defective cells. They must now find a way to correct a significant number of defective cells in cystic fibrosis patients. Several clinical studies are under way to refine gene delivery. Research continues, and much work remains before an actual cure for this complex disease is found.
How Can I Prevent It?
If both would-be parents are carriers of the cystic fibrosis gene, they may wish to consider their chances of having a child with cystic fibrosis. Genetic testing of the fetus for cystic fibrosis can also be done in the uterus, but requires taking fluid or tissue samples from the womb (amniocentesis or chorionic villus sampling). But once a child is born with the defective genes that cause the disease, there are no treatments available that can prevent cystic fibrosis from developing (although that is a goal of genetic research).
the Basics | Symptoms | Treatment
