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Cystic Fibrosis is a term that we have all heard before. I can remember television ads in the 1960's appealing for donations to help find a cure for this ailment. Many years later I am curious to know exactly what Cystic Fibrosis (CF) is. After a little research I was surprised to learn that CF affects about 30,000 people in the United States alone. CF is at the root of most chronic lung disease (except asthma) in children and young adults.
CF is a genetic disease that produces thick mucus. This thick mucus blocks the pancreas and interferes with the digestive process. Some children with CF have symptoms right at birth. They are born with "meconium ileus." This thick pasty substance is called meconium and passes through the intestines in a day or two. Babies with CF develop a thicker, harder meconium that will not pass and blocks the intestines.
Cystic fibrosis disrupts the cells in the sweat glands and the tissues inside the lungs, liver, pancreas, digestive and reproductive systems. The CF gene causes the body to produce a contaminated protein, CFTR. (Cystic Fibrosis Transmembrane Conductance Regulator) The defective CFTR protein will affect the epithelial cells and block the passing of salt between cells. Consequently, the salt and water mix inside the lungs, pancreas, and other organs is not right and thick mucus develops.
In a healthy person, the mucus in the lungs brings up germs and dirt from the respiratory system, keeping the airways clean. In a CF patient, the mucus is too thick and heavy to move up and remains in the lungs with the germs it has trapped. The germs eventually cause a lung infection. The mucus problem also affects the pancreas as thick mucus blocks the passage of digestive enzymes to the intestines. Foods are not digested properly, fats and nutrients are not absorbed, and patients inevitably lose weight.
Who is at risk of getting Cystic Fibrosis? Statistically, Caucasians have the highest risk with 1 out of 2,500 to 3,000 of these babies being born with CF. One out of every 17,000 African Americans one of every 90,000 Asian Americans will be born with CF. CF is inherited but both parents must contribute a CF gene for a child to develop the disease. A CF carrier (one gene only) never develops symptoms but can pass the gene on to their offspring. If two CF carriers have a child, there is a 25% chance that the child will develop CF. Boys and girls are equally susceptible. Most children with CF die before reaching adulthood. In fact only 35% of North American sufferers reach the age of majority.
CF affects children and diagnosis is usually made before the age of three years. Symptoms appear in the lungs and digestive system, and vary in severity. Babies born with CF will not put on weight, as parents would expect. Mucus blocks the pancreas and prevents digestive enzymes from entering the intestines. Cells in the sweat glands are affected and release excess salt in the perspiration. Children with CF will have congestion, wheezing and asthma-like symptoms. Chronic infections will often lead to lung disease and disability. These breathing problems lead to an early death in many cases. Modern treatment focuses on blockage and infection in the lungs and now, 50% of CF sufferers reach the age of 28.
The sweat test is the most common test for CF. An electric current causes stimulation of the sweat glands to produce sweat. The sweat is collected and tested for chloride. A certain level of chloride in the perspiration is an indicator of CF. Genetic tests performed during pregnancy can reveal if the fetus has CF. There is no way to determine the severity of the disease before birth.
Pulmonary therapy (to improve lung function) and nutritional therapy (vitamin and mineral supplements) are part of modern treatment programs. Children with CF may also take pancreatic enzymes by mouth to aid with digestion. Oral and mist antibiotics will help to treat lung infections, and a mucus-thinning agent will keep mucus flowing the way it should.
Protein repair therapy works at repairing defective CFTR proteins. Treatment of CF depends on severity of the ailment and the organs affected. Chest physical therapy involves the caregiver or therapist cupping their hands and drumming the back and chest of the patient to loosen the mucus in the lungs. Antibiotics are often required due to frequent lung infections. Special diets will ensure that all necessary enzymes and vitamins will be delivered to the body.
It was as recently as 1989 that the CF gene was discovered. Experimental gene therapy has been ongoing since 1993. Some new drugs are helping to ease the suffering of CF patients. "Pulmozyme", a mucus thinning drug, was approved by the FDA in 1993. Ibuprofen in high doses can reduce lung inflammation. In 1997, the FDA approved the drug TOBI. This antibiotic improves lung function and reduces the time spent in hospital.
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