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A hereditary disease that is present from birth, cystic fibrosis causes certain glands in the body to produce abnormal secretions that can cause many symptoms. Of these symptoms the most important affect the digestive tract and lungs. People with cystic fibrosis will have a tendency to chronic lung infections and may also have a inability to absorb nutrients and fats from food. This disease was first identified in the 1930's prior to the discovery of effective antibiotics resulting in the death of most sufferers during early childhood. Since 1975 the outlook for victims of cystic fibroses has dramatically changed. Advanced methods of diagnosis and treatment have been discovered that has greatly increased the survival rate, but even so this disease still remains serious and potentially fatal.
Cystic fibrosis, which is also called mucoviscidosis, is cause by a defect in a recessive type gene. This means that a person must inherit it in a gene from both parents before an outward abnormality is noted. Those who inherit only one of the genes are known a carriers. In most cases these people remain unaware that they are carriers since there are no symptoms. Throughout the world approximately one person in every 22 is a carrier even though the chance of two carriers reproducing is around 500 to one. Thus each child of a carrier has a one in four chance that they might inherit the gene from both parents and be born with cystic fibrosis.
It is unknown what cause the gene to defect and lead to this disease but it is known that it causes some glands not to function properly. This is especially serious with the glands in the lining of the bronchial tubes that tend to produce excessive amounts of thick mucus creating chronic lung infections. Just as serious is the failure of the pancreas to produce enzymes that are involved in the break down of fats in the body and their absorbtion from the intestines which causes malnutrition. In many cases the sweat glands are affected as well. Symptoms may include a child who passes pale, greasy appearing stools that carry an extremely foul odor. A child with this disease will have persistent chest infections such as bronchiiectasis, bronchitis or pneumonia which causes lung damage. Most male sufferers will be affected by sterility. Growth may be stunted and the sufferer may have a high content of salt in their sweat.
Anytime these symptoms are present they should be reported to a doctor immediately. The faster antibiotic treatment is started to minimize lung damage the better the chances are for survival. A doctor will do lab work to confirm the diagnoses and will recommend a treatment schedule. Pancreatic enzyme preparations will be given with each meal to enable the proper digestion of food. A diet that is rich in proteins and calories will be recommended. As an extra precaution a vitamin supplement may be prescribed. If the highly specialized treatment plan is followed the cystic fibrosis suffer will be provided with a much better quality of life than ever before. Recent studies have succeeded in finding the location of the defective gene involved in this disease. By identifying the biochemical markers on this gene it is now possible to identify the carriers and thus detect cystic fibrosis prior to birth.
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