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Cystic Fibrosis Research Paper

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Our genetics and DNA design the entire make up of the human body. From our physical appearance to our health and mental capabilities. Parents have dominant and recessive traits that decide the genetic makeup of their offspring. More times than often the match up of the patient’s genes can pass down a genetic disorder to the offspring. One common example of an autosomal recessive disorder is cystic fibrosis. Cystic fibrosis is a genetic condition in which the lungs and digestive system become clogged with thick sticky mucus. When learning about this disorder, it is important to understand the etiology, pathogenesis, and clinical manifestations. Knowing this information will allow for an enhanced perceptive on the people who live with …show more content…

For the cystic fibrosis gene to be passed to the offspring both parents need to be carriers. If only one parent is a carrier, then the child will not develop cystic fibrosis but will also become a carrier and could pass the gene to their children. Cystic fibrosis is the most common fatal inherited disease in white people. According to Medscape, 1 case per 3,200-3,500 population of whites of northern European origin are affected. “Cystic fibrosis is caused by mutations in a single gene on the long arm of chromosome 7 that encodes from cystic fibrosis transmembrane regulator (CFTR), which functions as a chloride channel in epithelial cell membranes” (Porth page 584). The mutation reduces the epithelial membrane’s resistance to the …show more content…

According to the CFF Homepage several clinical manifestations include; salty-tasting skin, persistent coughing, often times with phlegm, common lung infections, wheezing, shortness of breath, poor growth or weight gain in spite of a good appetite, regularly greasy, bulky stools or constipation, and male infertility. Salty-tasting skin occurs because the epithelial cells on the sweat glands are affected, large amount of salt is released when the patients sweats, leaving a salty frosting on the skin. A persistent cough is expected because the lungs are trying to remove the phlegm and clear the airway. Lung infections are frequent because the “buildup of mucus makes it easier for bacteria to grow and cause infections” (What Are the Signs and Symptoms of Cystic Fibrosis? (n.d.)). Wheezing and shortness of breath are also caused because of the buildup of mucus in the lungs. Patients with cystic fibrosis have poor growth or weight gain in spite of a good appetite, as the mucus that lines the intestines enables the patient from getting enough nutrients because the pancreas cannot release the necessary enzymes to help absorb fats and proteins. Since the intestines cannot fully absorb fats and proteins, this causes regular greasy, bulky stools or constipation. “In 97–98% of men with CF, a bilateral congenital absence of the vas deferens (CBAVD) blocks the transport of spermatozoa from

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