Biology Research 265
Dr. Kathy Durham
Question One: The physician asked the mother of the infant if the infant's skin was salty because one of the symptoms of cystic fibrosis is having thick and heavy mucous ... and salty sweat. When the CFTR (Cystic Fibrosis Trans membrane Conductance Regulator) protein is defective, epithelial cells can't regulate the way chloride (part of the salt called sodium chloride) passes across cell membranes. This disrupts the essential balance of salt and water needed to maintain a normal thin coating of fluid and mucus inside the lungs, pancreas, and passageways in other organs. Question 2: The physician requested genetic testing after the infant tested positive for the sweat test. The sweat test is used to help diagnose cystic fibrosis. This test measures the amount of chloride in the sweat. If one has cystic fibrosis, the amount of chloride is greater, approx. 2-5 times more than normal. And it's a very common procedure done to determine cystic fibrosis. Now, it comes down to the genetic testing because cystic fibrosis is a gene mutation. Genetic carrier testing can be used to tell if a person carries one or more mutations of the CF gene and how many copies of each mutation. Question 3: The physician ordered inhalation treatments to loosen up the thick mucous in the lungs so the infant could possibly cough and breathe better. And the antibiotics are to kill any bacteria/infection at that moment. Question 4: The physician gave the mother information on diabetes because cystic fibrosis cause malfunctioning of many organs ... one being the pancreas. And cystic fibrosis affects this a lot. The pancreas could be malfunctioning ... not producing enough insulin. This disease could definitely affect cystic fibrosis. Insulin has a significant beneficial effect on lung function in patients with cystic fibrosis. Question 5: After determining that the results were positive, I would still go along with the pregnancy. After all, the advantage is you are well aware of the process, though it's not the greatest.