Cystic Fibrosis

What Causes Cystic Fibrosis?

Cystic fibrosis can be transmitted to a child when both parents carry the same recessive gene for the disease but do not suffer the disease themselves. In this situation each child inherits a 25 percent chance of developing cystic fibrosis, a 50 percent chance of carrying but not suffering the disease, and a 25 percent chance of being totally unaffected. Boys and girls get cystic fibrosis equally.

Diagnosing Cystic Fibrosis

This disease affects the glands that secrete sweat and mucus. The mucus is very thick and sticky and blocks airways and bile ducts. In addition, the sweat is very salty, and the child may suffer from salt depletion while sweating during hot weather. Children with cystic fibrosis suffer repeated pulmonary infections, and in time the lungs of most patients are infiltrated with Pseudomonas bacteria, an infectious agent very difficult to eradicate. Fever, cough, difficulty in breathing, fast respiration, flaring of the nostrils, poor appetite, and reduced activity are typical features of acute cystic fibrosis. Lung collapse, excessive mucus in the bronchi, or abscesses are possible. Sometimes, because of the air that is chronically trapped in the chest, the child gets a barrel-chested appearance.

Cystic fibrosis is diagnosed with a sweat test, which measures the amount of salt in perspiration. If that test is positive, it should be confirmed with a second test. Since a child's siblings run an increased risk of also having cystic fibrosis, they should also be tested.

Treatments for Cystic Fibrosis

Cystic fibrosis is often treated at home with antibiotics, special exercises for draining of sputum-including physical therapy for the chest, physical exercise, and aerosols-as well as diet therapy, which emphasizes the replacement of deficient digestive enzymes. Surgery is sometimes performed to correct physical complications. Because some of the tenacity of the mucus and secretions results from increased amounts of DNA, a new approach is the administration of Pulmozyme, which contains an enzyme that breaks down the DNA, thereby liquefying the secretions and making it easier to clear them.

Research on Cystic Fibrosis

Scientists have recently isolated the gene responsible for cystic fibrosis and have begun developing treatment techniques that will repair the genetic defect in a patient's lung tissue.

Researchers have also identified an abnormality in the regulation of a cellular channel through which chloride ions move that may play a role in the disease. Both of these scientific discoveries promise better understanding of cystic fibrosis, better forms of treatment, and possible prevention.