Cystic fibrosis is an autosomal recessive disease of varying phenotypic expression. In its most common form, a single amino acid mutation leads to the production of an abnormal protein (CFTR = cystic fibrosis transmembrane receptor) important in transporting chloride ions across epithelial cells found in the lung and intestinal tract. The consequence of this defect in the lung is that mucous and other debris are not cleared in the normal fashion. This leads to frequent pulmonary infections and eventual permanent damage to the lung tissue. The discovery of more powerful antibiotics and the realization of the importance of good chest physiotherapy has vastly increased the life expectancy of those with cystic fibrosis. Despite these advances, persons with CF become infected more and more frequently with resistant strains of bacteria, especially pseudomonas. As their lung function gets worse, they develop pulmonary hypertension and eventually cor pulmonale. Death usually occurs from severe infection or heart failure.
In addition to frequent pulmonary infections, persons with CF also have problems absorbing fat soluble vitamins. The also are lacking in pancreatic enzymes. They therefore need to be supplemented with vitamins A, D, E, and K as well as pancrease enzyme.
Some sufferers of cystic fibrosis go on to have a heart-lung transplant. Gene therapy is a theoretical possiblity as the gene for CFTR has been cloned. Attempts at translating this knowledge into a successful clinical cure have been disappointing.
Cystic fibrosis (abbreviated CF), also called mucoviscidosis, is a
autosomal recessive
? [hereditary disease]
? that affects the lungs, sweat glands and the digestive system. The symptoms usually develop during early childhood. Both lung
?s and pancreas
? produce abnormally viscous mucus
?. The mucus in the lungs can become a growth medium for bacteria, resulting in chronic respiratory infections.
Cystic fibrosis was first described as a disease in the late 1930s. Approximately one in every 25 people carries one normal and one CF gene. Since cystic fibrosis is recessive, both copies of the gene have to be CF genes to cause the symptoms that occur to about 1 in every 2500 children. The disease can be diagnosed by a high salt concentration in a baby's sweat.
By advanced medical procedures, the life expectancy of a newborn with cystic fibrosis increased from 4 years (in the 1960s) to 32 years today. These procedures include the intake of digestion enzymes, nutritional supplements, percussion and postural drainage of the lungs, and inhalation of aerosols containing medication. A few attempts of gene therapy were initially successful, but failed to produce acceptable long-term results.
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