Cystic Fibrosis Research Paper

Cystic fibrosis (CF) is a disease that is caused by a defective gene that is inherited from both parents. The defective gene causes a person’s body to release thick sticky mucus which subsequently causes the patient’s airways to be blocked. Cystic fibrosis is a chronic respiratory disease with typical symptoms being digestion, wheezing, lung infection, stuffy nose, and a persistent cough.

In 1938 an American Pathologist, Dr. Dorothy Anderson, was the first to identify and document cystic fibrosis disease in medical literature. After studying autopsies of malnourished children, she came to understand and label the disease as “cystic fibrosis of the pancreas”. In 1948 Dr. Paul di Sant’Agnese discovered that the sweat of dehydrated infants contained

The gene makes proteins that controls how salt and water work within the body’s cells. If only one of the two parents passes the defective gene then their child will not inherit the disease. Even though a child may inherit defective genes from both parents, it is not guaranteed that the person will develop the disease, and in-fact, there is only a 25% chance that they will. Even though an individual that inherited the defective gene from both parents does not exhibit the disease, they are still a carrier of the defective gene, and hence have the possibility of infecting their own children. A defective CFTR gene that triggers cystic fibrosis causes the cells within an infected body to accumulate an inappropriate quantity of salt or water within the body’s cell. This can result in the body losing nutrients through sweat. It has been noted that there are more than 1,000 different types of mutations possible in the CFTR genes in people with cystic fibrosis. Since cystic fibrosis is easily verified with a blood test and can suggest critical early treatment options, screening will typically be done in newborns. If the screening test finds cystic fibrosis, this does not always mean that the disease will manifest in the newborn. An additional test that is subsequently taken is a measurement of the level of salt in the newborn’s sweat to indicate that the

Impact to the digestive system can additionally result in nutritional deficiencies that can then lead to abnormalities such as diabetes, a blocked bile duct, intestinal obstructions and distal intestinal obstructions. Due to the potential for mucus blocking the tube connecting the testes and prostate gland, infertility in men is also a highly common outcome due to cystic fibrosis. Cystic fibrosis in women affects their ability to conceive and makes pregnancy high risk. Other typical complications include osteoporosis, electrolyte imbalances, and the potential for