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Help for Cystic Fibrosis Patients | |
By DR. ROBERT GIUSTI New treatments have achieved major advances in prolonging the lives of the 30,000 children and young adults with cystic fibrosis in the United States. A decade ago, most cystic fibrosis patients died in their teens. A significant proportion of patients now are living into their 30s and beyond. This genetic disease has several major adverse effects. Because the pancreas does not produce its digestive enzymes, patients cannot digest fats and protein properly. However, with early diagnosis, pancreatic enzyme replacement and vitamin supplementation, patients can achieve normal growth in their childhood years. The degree of lung disease largely determines the prognosis in cystic fibrosis patients. They suffer from breathing difficulties caused by excess, sticky mucus in the lungs. Bacteria grow in the mucus, making patients especially vulnerable to lung infections, and the body's response to the presence of the bacteria may also cause progression of the lung disease. Antibiotic therapy is given to counter the risk of infection. Oral and intravenous antibiotics are used to fight infections by pseudomonas, a bacterial agent that is especially common in cystic fibrosis. Antibiotics in aerosol form are now being studied to determine what role they may have in keeping children out of hospitals and in prolonging life. The hope of successful gene therapy holds the key to a future cure of this most common lethal genetic disease of Caucasians, although many hurdles remain to be overcome. The gene whose mutations cause cystic fibrosis was identified seven years ago. That discovery now allows prenatal testing to determine whether a fetus has this genetic abnormality. Prenatal testing is recommended only for parents who have had a previously affected child or when both members of a couple are identified as carriers. Cystic fibrosis is classified as a recessive condition, meaning that it develops only if a child inherits two mutated genes, one from each parent. Someone who inherits just one mutated gene is a carrier who does not develop the disease. A simple blood test can readily identify cystic fibrosis carriers among people of European descent. Because there are 500 different mutations that can cause cystic fibrosis, carrier testing is not completely definitive. The test looks for the 32 most common mutations. That is enough to achieve 90 percent reliability in diagnosing the condition, but a small margin of error remains. One form of prenatal testing is amniocentesis, in which a sample of the fluid that surrounds the fetus is obtained at about four months of pregnancy. Fetal cells in the fluid then are studied for the presence of the mutated genes. Another kind of prenatal test is chorionic villus sampling, which can be done at about three months of pregnancy. A small piece of the chorionic membrane in the womb is obtained and examined for the mutation. --- Dr. Robert Giusti is a Clinical Instructor in Pediatrics at New York University School of Medicine. Copyright 1996 Associated Press. All rights reserved. This material may not be published, broadcast, rewritten or redistributed. | |