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Cysticfibrosis

CysticFibrosis

WHAT IS CYSTIC FIBROSIS AND WHO DOES IT AFFECT:

Every year, 1,000 children with cystic fibrosis are born in the United States. 1 in 3,000 Caucasian babies have the disorder, making Cystic Fibrosis one of the most common lethal genetic diseases in Caucasians. Overall, there are 30,000 Americans with Cystic Fibrosis, and an estimated 8 million people carry one copy of the defective gene that causes the disease. These carriers do not have symptoms of Cysitc Fibrosis, because a person must inherit t two defective gene's, one from each parent-to develop the disease. However, each child of two Cystic Fibrosis carriers has a one in four chance of being born with Cystic Fibrosis. You can now have test to identify couples at risk for having children with Cystic Fibrosis.Improved therapy has transformed Cystic Fibrosis from a disease, to a chronic illness, with most patients living to adulthood. But despite this progress, there still is no cure for the disease and most patients eventually will have infections of the airways and lung failure. Since the 1989 identification of the gene which is altered in Cystic Fibrosis, the pace of basic research has increased rapidly, and scientists hope to translate new knowledge about the molecule basis of the disease to new therapies to improve the lives of patients with this genetic disease. The National Institute of Diabetes and Digestive and Kidney Diseases in partnership with other components of the National Institutes of Health and the Cystic Fibrosis Foundation, continues to foster research on the molecular processes contributing to CF, exploration of gene therapy to cure the disease, and efforts to develop other new and effective treatments. SYMOTOMS: The greatest symptom of Cystic Fibrosis is the excessive production of thick, sticky mucus in the airways. Several factors may contribute to this mucus abnormality. In Cystic Fibrosis, the cells lining the airway do not transport salt and water normally, so mucus and other airway secretions may be depleted of water. There are also chemical changes in the mucus proteins. The mucus becomes so thick that it clogs the airways and provides an environment in which bacteria thrive. White blood cells are recruited into the lung to fight the infection. These white blood cells die and release their genetic material, into the mucus. This DNA aggravates the already excessive stickiness of the mucus, setting up a vicious cycle of further airway obstruction, inflammation and infection. To dislodge the mucus, Cystic Fibrosis patients cough frequently and require time-consuming daily chest and back clapping and body positioning to drain lung secretions. Because the mucus provides an ideal breeding ground for many organisms, Cystic Fibrosis patients have frequent airway infections. Among the most common germs causing infections in Cystic Fibrosis patients are Pseudomonas bacteria. This germ is difficult to clear in Cystic Fibrosis patients, even after treatment with antibiotics. Typically, Cystic Fibrosis patients have a pattern of low-grade, persistent infection with periodic worsening, sometimes requiring hospitalization. Recurring Pseudomonas infection and the inflammation that accompanies it gradually damage the lungs, causing respiratory failure, which is the leading cause of death among Cystic Fibrosis patients. As in the lung, thick secretions clog the pancreatic openings and damage the pancreas. In some Cystic Fibrosis patients, this damage occurs even before birth, while in others it develops as they grow older. The pancreas supplies digestive enzymes and bicarbonate to neutralize stomach acid so the enzymes can work properly in the intestine. Most Cystic Fibrosis patients have insufficient amounts of digestive enzymes for normal digestion. Pancreatic insufficiency causes foul-smelling, bulky bowel movements, malnutrition and slowed growth and development. Replacement of pancreatic enzymes can alleviate these symptoms. Attention to diet and supplements of fat-soluble vitamins are also required. As the disease progresses, the cells in the pancreas that make insulin may also be damaged and patients may develop diabetes. In addition to the pancreas, abnormalities are seen in other parts of the gastrointestinal tract. The bile ducts in the liver may be affected, causing biliary cirrhosis in a small percentage of patients. Newborns with Cystic Fibrosis may develop a condition called meconium ileus, in which the small intestine is obstructed by a plug of thick dark green fluid wich is called meconium, the material in the newborn gastrointestinal tract. Cystic Fibrosis also affects the reproductive organs, causing infertility in nearly all men and some women with the disease. Men with Cystic Fibrosis are generally infertile because the tubules, called the vas deferens, that meconiumtransport sperm from the testes are absent or undeveloped. Fertility may be reduced in women due to abnormal cervical mucus or to menstrual irregularity. Although pregnancy can be risky, many women with Cystic FIbrosis with relatively good pulmonary function have borne healthy children. However, the incidence of CF in their offspring is about one in 50. SIGNS AND TESTS OF CYSTIC FIBROSIS: One of the tests they can preform is the Sweat electrolytes test. Its is a test that looks for how much chloride is in the sweatAnother test is the fecal fat test. It is a test that measures the amount of fat in the stool and the percentage of dietary fat that is un-absorbed. those are just some of the many tests that we have for Cystic Fibrosis. GENE THERAPY It is not yet possible but process is being made in finding out how to do gene therapy. Scientists in the laboratory have grown cells from the nose of a Cystic Fibrisis patient. The chloride defect has been correctedin small regions of the nasal cavity. They are giving the normal genes through nose drops. Word Count: 926



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