Cystic Fibrosis Research Paper

Submitted By batman426
Words: 1196
Pages: 5

Cystic Fibrosis

Gary Mayberry

Medical Terminology

Prof. Gardner

Perspective: Cystic Fibrous is an autosomal recessive genetic disorder that effects the body's human body's lungs, pancreas, liver, and intestines also known as mucoviscidosis mostly found in those with european ancestry. Cystic Fibrous targets the respiratory system and effects an person's lungs aggressively leaving them with short breath and difficulty breathing. Though this diesese affects the respiratory system mostly, it also greatly affects the endocrine system and gastrointestinal tract as well. What makes this illness so devastating is the way it actually attacks the respiratory system, which is composed of the lungs, pharynx, and nasal pathways.

Overview: Cystic fibrosis is the most common genetic disease of Caucasians. One in 25 Caucasians are carriers of the gene, although this is rarer in other races. There are over 230 different alleles of the gene, located on the long arm of chromosome 7. The gene encodes for a membrane protein, the cystic fibrosis trans-membrane conductance regulator, which functions as an ion channel. Cystic Fibrosis is caused by mutations in this gene. The basic defect in ion transport results in the accumulation of sticky thick mucus in relation to epithelial surfaces in many organs, including the lungs, sinuses, pancreas, gastrointestinal tract, and hepatobiliary system, sweat glands and reproductive tract. The thick mucus accumulated in the lungs make it very difficult for an individual affected with this disease to breathe. The mucus blocks the air flow traffic disrupting how much oxygen someone inhales forcing a retention of carbon dioxide in the body. In regards to the digestive system, the thick mucous secretions interfere with the passage of digestive enzymes which block the body’s absorption of essential nutrients. The resulting maldigestion and malabsorption of food can cause affected individuals to become malnourished despite an adequate diet. Bulky, greasy, foul-smelling stools are often the first signs of cystic fibrosis. About 10 percent of infants with cystic fibrosis have intestinal obstruction at birth due to very thick secretions. Cystic fibrosis also causes the sweat glands to produce sweat that has an abnormally high salt content.

Epidemiology: As stated earlier in the paper Cystic Fibrosis is a rare yet mostly exclusive disease related to individuals with Caucasian ancestry. It is estimated to occur in 1 per 2,000 live births in the United States, and is particularly concentrated in people of northwestern European descent. Cystic Fibrosis is passed on genetically meaning it is an inherited disease. The disorder was long known to be recessive only persons inheriting a defective gene from both parents will manifest the disease. The disease has no manifestations in hetero-zygotes or in other words individuals who have one normal copy and one defective copy of the particular gene involved.

Etiology: Most cases of Cystic Fibrosis are caused by a genetic mutation that corresponds to the production of a CFTR protein that lacks the amino acid phenylalanine. As a result, chloride and sodium accumulate within cells, drawing the fluid into the cells and causing dehydration of the mucus that normally coats these surfaces. The thick, sticky mucus accumulates in the lungs, plugging the bronchi and making breathing difficult. This results in chronic respiratory infections, often with Staphylococcus aureus or Pseudomonas aeruginosa. Chronic cough, recurrent pneumonia, and the progressive loss of lung function are the major manifestations of lung disease, which is the most common cause of death of individuals with cystic fibrosis.

Detection: Since Cystic Fibrosis is genetically passed on it is hard to actually detect the disease in individuals without several laboratory test. There are several signs pointing to Cystic Fibrosis in newborns, for example if the