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Cystic Fibrosis Research Paper

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Cystic fibrosis is an inherited disorder with no possible cure [as of now]. This life- threatening disorder happens when there’s a mutation in the CFTR (Cystic Fibrosis
Transmembrane Conductance Regulator) gene on chromosome 7. It is an autosomal recessive gene, which means that the mutated gene must be inherited from both parents. It is a very complex disease since it affects various parts of the body. The gene mutation causes a defect of a protein in the cell membrane. This gene disturbs the function of the chloride channels, restricting them from governing the flow of chloride ions and water in and out of cells. Chloride ions help control the movement of water in tissues, which helps the production of free flowing mucus.
Free flowing …show more content…

But this defective gene causes the secretions that produce mucus, sweat and digestive juices to become thick and sticky, plugging up the tubes, ducts, and passageway. It causes severe damage to the lungs and digestive system. It also affects the intestines, liver, lungs, pancreas, sex organs and sinuses. The result, a disease of the secretory glands.

Symptoms of cystic fibrosis can start as early as a newborn baby; blocked intestine at birth, salty tasting or sweaty skin, unusual bowel movements, and breathing problems are just a few. Polyps in the nose or sinuses, coughing up mucus that may contain blood, rectal prolapse, and infertility are symptoms that may come later in life. There are exams and tests that could and should be taken if any of the symptoms arise. A positive newborn screening test, physical exam, genetic testing, two positive sweat tests, and an abnormal nasal potential difference test should be done, especially if the parents already have a child that has been diagnosed with cystic fibrosis. There is about 30,000 people, children and adults, living with cystic fibrosis in the United
States. If both parents are carriers of this mutated gene, their child will have a 25% chance

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