Cystic fibrosis, or CF, is an incurable genetic disease characterized by abnormalities of the exocrine and eccrine glands, which secrete sweat, mucus, digestive juices, and other substances. The abnormal glands produce large amounts of thick, sticky mucus that can clog airways, intestines, and other passageways. Progressive blockage of the bronchial tubes often leads to infection, respiratory failure, and death. Intestinal blockage usually affects the pancreas, causing poor digestion and impaired absorption resulting in slow growth and under nutrition. The sweat glands are also affected, so that abnormal amounts of sodium, chloride, and potassium are excreted in perspiration. In 1989, scientists identified the gene that causes the disease, which was a major breakthrough for developing future treatments. Cystic fibrosis develops only if a child inherits the CF gene from each parent. In the United States, it is most common among whites, affecting one baby in 2,000.
Other Causes of CF Symptoms
The main symptoms of cystic fibrosis are seen in many other conditions. Coughing, wheezing, and spitting up mucus are common to asthma, bronchitis, pneumonia, and other diseases of the lung. Similar digestive problems may be caused by celiac disease and other malabsorption disorders.
Diagnostic Studies And Procedures
Although cystic fibrosis is present at birth, symptoms may not appear right away; most cases are diagnosed by the time a child is three. Common symptoms include recurrent wheezing, a persistent cough that produces large amounts of mucus, repeated bouts of pneumonia, and frequent bowel movements of bulky, greasy, and foulmelling stools. The child may fail to grow, despite having a healthy appetite. Parents often notice that the baby’s skin has a salty taste. A doctor may find small fleshy growths, or polyps, inside the nose and enlargement of the fingertips and toes. Diagnosis is confirmed by a test to measure the salt content in the child’s sweat. In new borns, the immunoreactive trypsinogen test (IRT) is used instead.
Isolation of the cystic fibrosis gene has enabled scientists to develop a method for replacing the faulty gene. This treatment, first tried on a patient in April, 1993, involves introducing a harmless virus that has been altered to carry a normal gene that will replace the one causing the disease. Although this approach appears promising, much more study is needed. Routine care, coordinated by a specialist in pediatric pulmonary diseases, should begin as soon as the diagnosis is made. Treatments vary, depending on the organs involved and the severity of the disease. Digestive problems are controlled usually with pancreatic enzyme supplements, nutritional supplements, and dietary changes. Treatment of lung problems is aimed at clearing the airways and preventing infection. Prophylactic antibiotics and other drugs, including inhaled medications, may be prescribed. As the disease progresses, oxygen support is often necessary. Bronchial washes may help unclog the airways. As a last resort, a heart lung transplant (the transplanting of heart and lungs as a unit) may be tried, if the patient’s heart is undamaged, it can then be used as a donor organ for someone who needs only a heart.
Alternative therapies play an important role in maintaining a patient’s strength and warding off infection.
Echinacea, ginger, marsh mallow, and hyssop teas are recommended for thinning mucus to make it easier to cough up.
Practitioners suggest high doses of vitamin C to strengthen the immune system, vitamins K and the B6 complex to aid digestion, and pancreatin and other pancreatic enzymes to regulate metabolism. Be sure to check with the child’s doctor before giving any nutritional supplement.
A child with cystic fibrosis usually needs more calories than a healthy one. Certain foods may have to be avoided if they cause intestinal cramps, diarrhea, or constipation. Extra salt may be needed to maintain the body’s proper balance of fluids and chemicals, especially during warm weather or a fever. Acidophilus pills may help restore normal intestinal bacteria when antibiotics are being taken, thereby preventing diarrhea. A clinical dietitian experienced in dealing with cystic fibrosis can provide expert guidance on structuring an appropriate diet.
A physical therapist can design an activity program that will help a child with CF maintain strength and fitness without overtaxing his level of endurance.
Parents administer day to day care, which includes regular bronchial drainage or postural drainage . As soon as a child is old enough, she should be taught how to perform the routine herself. Coughing is useful because it helps loosen mucus and remove it from air passages; therefore, cough suppressants should not be taken. Although it is important to avoid unnecessary contact with people who have a contagious illness, children with CF should be encouraged to lead normal lives. Parents might want to consider joining a CF support group, so they can share insights with other parents who are facing similar problems.