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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 normal people, the function of respiratory tract epithelial cells is to transport chloride ions into the lumen thereby maintaining the adequate hydration of mucus. In the respiratory tract of persons with cystic fibrosis there is a reduction of the secretion of sodium ions and water caused from the inability of epithelial cell membranes to influence the hydration of mucus. Consequently the mucus becomes very thick. This mucus affects the clearance of irritation and micro-organisms from the lungs. The following events occur in the lungs.
Genetic testing is now available. Cells are collected from inside the cheek of patients and then examined for the
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Cystic Fibrosis has been identified as a progressive disorder that affects thousands of people and often results to fatalities. To better provide insight of cystic fibrosis, an intricate understanding is essential on its historical evolution, causes, signs and symptoms, prevalence rates, treatment and management.
al ways: firstly, the sticky and thick mucous interferes with the normal functioning of the pancreas by blocking its ducts, thereby preventing insulin and other digestive enzymes from reaching the intestines and aiding digestion, thus fats, proteins and vitamins are poorly
The effects of CF are devastating, but life expectancy in the last 70 years since it was first written about has increased from almost certain death in infancy to 37 years of age. The following paper discusses the nature of CF through a brief
A study by Gulmans et. al. identifies the role of physical exercise among children with cystic fibrosis. The researchers established that the children’s exercise increased strength in their ankle and knee muscles, improved their oxygen utility
The disease usually affects the liver, intestines, pancreas, lungs and sex organs (Rosaler 2007).
Mucus provides a lining cavity to the organs, and individual suffering from the disease has mucus that is sticky
In order to start with the discussion, we first need to understand what cystic fibrosis is. Cystic fibrosis is a hereditary problem which affects the exocrine gland. A person suffering from cystic fibrosis has an abnormal production of thick mucus which leads to
The AF508 mutation that is what it is called as deletes three nucleotides or DNA building blocks from the gene. This loss leads to lack of a single amino acid or phenylalanine at position 508. Though this is the
The specific health problem of this community the prevalence of Cystic Fibrosis which has not been given much attention by most health care givers, yet it disrupts the daily activities of the community. The most affected groups in this community are the expectant mothers and the unborn babies who are at risk inheriting the genes.
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