Cystic Fibrosis - The Genetic Basis Of Cf, Clinical Manifestations In Cf, Treating Cf, Gene Therapy For Cf
disease function airways estimated
Cystic fibrosis (CF) is genetic disease characterized by defects in the transport of a molecule called chloride. Abnormalities in CF have been described in several organs and tissues, including the airways, pancreas, bile ducts, gastrointestinal tract, sweat glands, and male reproductive. Lung function is often normal at birth; however, airway obstruction and inflammation as well as bacterial colonization are characteristically seen in the CF airways. The pathophysiological consequences that follow are believed to stem from repetitive cycles of bacterial infection, which contributes to a progressive deterioration in lung function.
In the United States, the disease affects about one in every 3,900 babies born annually, and it is estimated that approximately 30,000 Americans are afflicted with this disease. The genetic defect that causes CF is most common in people of northern European descent. It is estimated that one in 25 of these individuals are carriers of a defective gene that causes CF. Currently, there is no cure for CF and the disease can be fatal. In the past, individuals with CF would die sometime during childhood. With pharmacological intervention due to drug discovery from many years of research, the age of survival has increased 31 years.
A cystic fibrosis patient using a nebulizer to loosen and subsequently expectorate the build up of thick mucus in the lungs. © Simon Fraser, National Audubon Society Collection/Photo Researchers, Inc. Reproduced with permission.
Additional Topics
CF is a homozygous recessive genetic disorder. In this type of disorder, two defective copies of the gene, one from each parent, must combine to produce the disease. If two people who each carry the defective copy of the gene have a child, chances are that one in four of their offspring will have CF. In 1989, a team of researchers located the defective CF gene, which was found to be located on chr…
Most of the symptoms of CF are related to the sticky mucus that clogs the lungs and pancreas. People with CF have difficulty breathing and are highly susceptible to bacterial infections of the lungs. Normally, bacteria are expelled from the lungs by coughing and the movement of mucus up the airways to the throat where the bacteria can be expelled. In people with CF, the mucus is too thick to be re…
Currently, no cure for CF exists. Treatment of the disease mainly involves alleviating symptoms caused by the build-up of mucus. To combat the lung infections, many patients are given large doses of antibiotics to prevent a severe, life-threatening infection. Some people undergo a course of antibiotics four times a year, on a predetermined schedule. Mucus in the lungs also can be broken down by dr…
Researchers hoped that by discovering of the gene responsible for CF, a genetic approach to curing the disease will be developed. In gene therapy, a normal gene is inserted into cells to replace the defective gene. In most gene therapy experiments, cells from an affected organ are removed from the body and infected with a virus that has been modified to carry the normal gene. The newly infected ce…
Recently researchers have located a number of defects on particular genes that appear to be responsible for the majority of CF cases. Knowing the location of these gene mutations makes it possible to test for carriers of the disease (individuals who have only one defective gene copy, and therefore have no symptoms themselves). Currently the test detects 85% of all CF gene mutations, which can be d…
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