Analysis of Cystic Fibrosis Disease - Essay Example

Cystic fibrosis is disease that affects the respiratory and digestive systems of the body. This disease is inherited and its primary feature is the excessive production of mucus. The mucus is abnormally thick and sticky and may cause inflammation in the lungs and pancreas. This occurs because the secretion which is normally thin is allowed to flow freely so it clogs up the ducts and passageways. The mucus affects the glands that produce saliva, sweat, tears and the digestive juices. The disease although can occur at any age. While in some people the symptoms begin in early stages of life, for others they may start to appear in adolescence or even in adulthood. It is possible that several hundred different mutations of the gene exist than can cause cystic fibrosis. The gene was discovered in 1989. The underlying defect stems from a mutation in a gene on the long arm (q) of chromosome 7. The protein product acts as a chloride channel. It is called the cystic fibrosis trans membrane conductance regulator (CFTR). This controls the cellular transport of sodium chloride and water. It is inherited and is a recessive gene. Some may be unique to certain families so testing of families in which the disease is present may yield results that will help to determine the specific mutation. People having this disease in the past were not expected to live long enough to reach adulthood but improved diagnoses and treatment now allows them to live even beyond fifty years of age. The usual form of death is from respiratory failure. In normal people chloride the chloride and sodium that is presented in sweat are reabsorbed by epithelial cells in the sweat dust as the sweat finds its way to the surface of the skin. In people with cystic fibrosis the defective gene inhibits the reabsorbing of chloride and sodium ions resulting in an excess of sodium chloride or very salty sweat. In this case study we were given Jake Peterson’s laboratory result which shows that he has Cl-120mmol/L which is very high compared to the normal reference range Read More