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Cystic Fibrosis Report

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Cystic Fibrosis is the common name for mucoviscidosis. Cystic Fibrosis is commonly abbreviated to CF. The name comes from the fact that cysts and fibrosis (scarring) occurs in the pancreas. Cystic Fibrosis occurs when a mutation happens in the Cystic Fibrosis Transmembrane Conductance Regulator gene, or CFTR for short. Many different mutations can occur, but the most common is the deletion of three nucleotides that would normally produce the amino acid phenylalanine. Normally, people have two working CFTR genes, however to have Cystic Fibrosis, a person must have both genes malfunctioning. Having only one mutated makes the individual a carrier. Thus, since both genes need to be mutated, Cystic Fibrosis is an autosomal recessive disease.

It was not till the 1900s that Cystic Fibrosis was fully understood; however in earlier times some cultures noticed that people who had very salty sweat would live a short life, and it has now been recognized that salt loss is a sign of Cystic Fibrosis. In 1938, Dorothy Anderson was the first to give Cystic Fibrosis its name, and hypothesized that it was recessive. In 1952, Paul di Sant' Agnese created the sweat test that can help diagnose afflicted children early in their life. In 1988, the mutation most responsible for Cystic Fibrosis was discovered by Francis Collins, Lap-Chee Tsui, and John Riordan.

There are many symptoms stemming from Cystic Fibrosis, but the main ones are poor growth, salty tasting skin, and thick mucus and infection in the lungs. The thick mucus allows many bacteria and fungus strains to grow out of control, which can cause pneumonia and headaches. The thick mucus also makes it difficult to breathe, which eventually necessitates the need for respirators. Cystic Fibrosis can also cause high blood pressure in the lungs and the coughing up of blood. Cystic Fibrosis causes blockage of the pancreas, which normally helps absorb nutrients from digestion. This causes malnutrition and poor growth. Eventually, it causes the thickening of feces, which can block up the intestinal track. Damage in the pancreas also hinders the creation of insulin, which causes a specific form of diabetes creatively called Cystic Fibrosis Related Diabetes. Clubbing of the finger can take place, and most males and some women are infertile.

There are no cures to Cystic Fibrosis, however management is available. Antibiotics are widely used, and help control bacteria growth in the lungs. However the more common bacteria strains found in afflicted lungs are hard to control, so the patient must be hospitalized and heavily treated to cause any difference. Exercise can be used to help clear the airways of mucus, and so can therapy that pushes on the chest to break up secretions. Eventually a ventilator is necessary to allow proper breathing. When the lungs eventually become so weak that their efficiency is below 30%, a double lung transplant



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