Research Paper on Cystic Fibrosis
Cystic Fibrosis is a very serious inherited genetic disease which affects one child in every 2,500 Caucasian births. This terrible disease usually affects the lungs and causes the build up of a thick mucus which causes chest infections. These infections unfortunately usually lead to death during childhood or early adulthood. On occasion, besides affecting the lungs, it affects the bowels and the pancreas, causing blockages in the intestines and poor absorption of food.
Cystic Fibrosis may first appear in a newly born baby, or in children or young adults. However, 7-10% of cases are apparent at birth. These newborns are born with “meconium ileus.” Meconium is a dark, sticky, putty-like material found in all children at birth. Normally, meconium is dissolved in a few days after enzymes from the pancreas act upon it. Cystic Fibrosis, however, causes a deficiency in the enzymes and the meconium builds up. Eventually it must be removed surgically. Older children and young adults who have Cystic Fibrosis usually suffer from four types of symptoms: gastrointestinal, pulmonary, sweat glands, and reproductive.
Genes are the main cause of Cystic Fibrosis. We inherit a complete set of genes from each parent, which results in pairs of genes. Every parent either contributes a normal gene or a mutated gene. Gene pairs, then, can consist of two mutated genes, two normal genes, or one mutated gene and one normal gene. Because the affected gene (found on the number 7 chromosome) is a recessive gene, one must inherit two copies of the affected gene in order to have the disease. If you inherit only one affected gene than you will not have Cystic Fibrosis but you will be a ‘carrier’. One in twenty Caucasians are carriers of Cystic Fibrosis.
Almost 90% of Cystic Fibrosis cases are caused by a mutation called DeltaF508. The mutation involves a missing amino acid called phenylalanine. The mutated genes cannot manufacture a protein called CFTR (cystic fibrosis transmembrane conductance regulator) correctly. The CFTR protein allows chloride ions to exit mucus producing cells and for water molecules to follow the chloride ions out. When the process is normal, mucus is of normal consistency. However, when chloride ions are trapped and water cannot escape, mucus becomes thick and sticky. The result is the disease we call cystic fibrosis.
Scientists do not know what the exact function of the CF gene is. However, they do know that defects in the gene result in the abnormal transport of salt and water across the cells in the lungs, pancreas, and bowels. This means that the mucus secretions normally produced by these cells are salty and very thick. The very thick mucus causes blockages in the bronchial tubes. This interferes with breathing and traps bacteria in the lungs. The bacteria in the lungs promote infection.
Unfortunately, the mucus in a Cystic Fibrosis patient’s lung provides a favorable environment for some types of bacteria that don’t usually affect healthy people. Like the lungs, CF also affects the narrow ducts of the pancreas, which secretes enzymes that digest food into the bowel, which become blocked by mucus. The mucus prevents important digestive enzymes from reaching the small intestine. This causes malabsorption syndrome. Malabsorption syndrome affects eighty-five percent of CF patients. Therefore, they require an energy-dense diet high in protein, fats, and vitamins. This diet usually consists of one and a half times the usually caloric content of a normal person. In addition, people with CF do not get the benefits of pancreatic enzymes, and pancreatic enzyme supplements must be taken along with meals. These enzymes are taken orally. Patients also receive additional A, D, E and K vitamins. Poor absorption also hinders patients’ ability to gain weight and to grow normally. However, the most serious impact of Cystic Fibrosis is still breathing.
Doctors can recognize Cystic Fibrosis by testing the salt content of the sweat; it is much higher in people with the disease. A chest X-ray and tests of the lung function will usually be undertaken. If chest infections occur frequently, a sample of sputum (phlegm) will be analyzed for the presence of bacteria. When Cystic Fibrosis is detected the patient has many treatment options. The overall aim of treatments are to treat infections, keep the lungs clean and free of sputum, maintain adequate nutrition, and to improve airflow.
When treating infections, antibiotics are used to combat the bacteria. For mild or moderate infections, antibiotics can be given in tablets, capsules, and liquids. If the infection is very severe, the patient may have to go to the hospital so the antibiotics can be administered there intravenously. Often antibiotics are given in an aerosol mist from an aerosol inhaler or nebulizer.
Cystic Fibrosis patients also require bronchodilator medications. Bronchodilators aide in opening up airways by helping move secretions within the lungs. The third type of medication is a mucolitic agent, Pulmozyme. Pulmozyme acts upon the DNA in sputum and breaks it down into a non-sticky liquid. It does not cure Cystic Fibrosis but it helps reduce lung infections and the need for antibiotics.
All Cystic Fibrosis patients have a higher amount of mucus in their lungs which makes Air Clearance Therapies (a form of chest physiotherapy) a good treatment. It is very important for patients to clear the thick secretions from the lungs. Patients who practice air clearance therapy at least once a day have a better long term lung function and less permanent damage.
A new type of therapy which may offer new hope for people suffering from Cystic Fibrosis is called gene therapy. Gene therapy is still, however, undergoing clinical trials. The overall idea of gene therapy is to make a normal version of the gene that is affected in Cystic Fibrosis and deliver it into the cells of the lungs and to restore their normal function. It is not a permanent treatment but the results of the trials seem to be promising. Most treatments that are used to alleviate symptoms of CF such as physiotherapy and antibiotics can be done at home which reduces the time a patient must stay in the hospital.
Eleven years ago in 1989, scientists made a remarkable discovery when they discovered the gene that is responsible for CF. When searching for the gene that cause the disease Dr. Lap-Chee Tsui said, “Looking for a cystic fibrosis gene was like looking for a house between New York and Los Angeles without a street address”. Even though it was difficult to find, the discovery of the CF gene has helped scientists enormously in uncovering the secrets of CF. His discovery helped doctors and scientists to understand cystic fibrosis’s affects on the body and will lead to the discovery of many more treatments and possibly a cure. Cystic Fibrosis is important to the scientific community as well as humanity because there is no cure and people are continuing to die. Scientists must continue to experiment with new treatments and techniques in order to someday, cure CF.
Cystic Fibrosis may first appear in a newly born baby, or in children or young adults. However, 7-10% of cases are apparent at birth. These newborns are born with “meconium ileus.” Meconium is a dark, sticky, putty-like material found in all children at birth. Normally, meconium is dissolved in a few days after enzymes from the pancreas act upon it. Cystic Fibrosis, however, causes a deficiency in the enzymes and the meconium builds up. Eventually it must be removed surgically. Older children and young adults who have Cystic Fibrosis usually suffer from four types of symptoms: gastrointestinal, pulmonary, sweat glands, and reproductive.
Genes are the main cause of Cystic Fibrosis. We inherit a complete set of genes from each parent, which results in pairs of genes. Every parent either contributes a normal gene or a mutated gene. Gene pairs, then, can consist of two mutated genes, two normal genes, or one mutated gene and one normal gene. Because the affected gene (found on the number 7 chromosome) is a recessive gene, one must inherit two copies of the affected gene in order to have the disease. If you inherit only one affected gene than you will not have Cystic Fibrosis but you will be a ‘carrier’. One in twenty Caucasians are carriers of Cystic Fibrosis.
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Almost 90% of Cystic Fibrosis cases are caused by a mutation called DeltaF508. The mutation involves a missing amino acid called phenylalanine. The mutated genes cannot manufacture a protein called CFTR (cystic fibrosis transmembrane conductance regulator) correctly. The CFTR protein allows chloride ions to exit mucus producing cells and for water molecules to follow the chloride ions out. When the process is normal, mucus is of normal consistency. However, when chloride ions are trapped and water cannot escape, mucus becomes thick and sticky. The result is the disease we call cystic fibrosis.
Scientists do not know what the exact function of the CF gene is. However, they do know that defects in the gene result in the abnormal transport of salt and water across the cells in the lungs, pancreas, and bowels. This means that the mucus secretions normally produced by these cells are salty and very thick. The very thick mucus causes blockages in the bronchial tubes. This interferes with breathing and traps bacteria in the lungs. The bacteria in the lungs promote infection.
Unfortunately, the mucus in a Cystic Fibrosis patient’s lung provides a favorable environment for some types of bacteria that don’t usually affect healthy people. Like the lungs, CF also affects the narrow ducts of the pancreas, which secretes enzymes that digest food into the bowel, which become blocked by mucus. The mucus prevents important digestive enzymes from reaching the small intestine. This causes malabsorption syndrome. Malabsorption syndrome affects eighty-five percent of CF patients. Therefore, they require an energy-dense diet high in protein, fats, and vitamins. This diet usually consists of one and a half times the usually caloric content of a normal person. In addition, people with CF do not get the benefits of pancreatic enzymes, and pancreatic enzyme supplements must be taken along with meals. These enzymes are taken orally. Patients also receive additional A, D, E and K vitamins. Poor absorption also hinders patients’ ability to gain weight and to grow normally. However, the most serious impact of Cystic Fibrosis is still breathing.
Doctors can recognize Cystic Fibrosis by testing the salt content of the sweat; it is much higher in people with the disease. A chest X-ray and tests of the lung function will usually be undertaken. If chest infections occur frequently, a sample of sputum (phlegm) will be analyzed for the presence of bacteria. When Cystic Fibrosis is detected the patient has many treatment options. The overall aim of treatments are to treat infections, keep the lungs clean and free of sputum, maintain adequate nutrition, and to improve airflow.
When treating infections, antibiotics are used to combat the bacteria. For mild or moderate infections, antibiotics can be given in tablets, capsules, and liquids. If the infection is very severe, the patient may have to go to the hospital so the antibiotics can be administered there intravenously. Often antibiotics are given in an aerosol mist from an aerosol inhaler or nebulizer.
Cystic Fibrosis patients also require bronchodilator medications. Bronchodilators aide in opening up airways by helping move secretions within the lungs. The third type of medication is a mucolitic agent, Pulmozyme. Pulmozyme acts upon the DNA in sputum and breaks it down into a non-sticky liquid. It does not cure Cystic Fibrosis but it helps reduce lung infections and the need for antibiotics.
All Cystic Fibrosis patients have a higher amount of mucus in their lungs which makes Air Clearance Therapies (a form of chest physiotherapy) a good treatment. It is very important for patients to clear the thick secretions from the lungs. Patients who practice air clearance therapy at least once a day have a better long term lung function and less permanent damage.
A new type of therapy which may offer new hope for people suffering from Cystic Fibrosis is called gene therapy. Gene therapy is still, however, undergoing clinical trials. The overall idea of gene therapy is to make a normal version of the gene that is affected in Cystic Fibrosis and deliver it into the cells of the lungs and to restore their normal function. It is not a permanent treatment but the results of the trials seem to be promising. Most treatments that are used to alleviate symptoms of CF such as physiotherapy and antibiotics can be done at home which reduces the time a patient must stay in the hospital.
Eleven years ago in 1989, scientists made a remarkable discovery when they discovered the gene that is responsible for CF. When searching for the gene that cause the disease Dr. Lap-Chee Tsui said, “Looking for a cystic fibrosis gene was like looking for a house between New York and Los Angeles without a street address”. Even though it was difficult to find, the discovery of the CF gene has helped scientists enormously in uncovering the secrets of CF. His discovery helped doctors and scientists to understand cystic fibrosis’s affects on the body and will lead to the discovery of many more treatments and possibly a cure. Cystic Fibrosis is important to the scientific community as well as humanity because there is no cure and people are continuing to die. Scientists must continue to experiment with new treatments and techniques in order to someday, cure CF.
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