Cystic Fibrosis

By: Sylvester Mathis

What is Cystic Fibrosis?

Cystic Fibrosis is a genetic condition in which a person has a thick, stick mucus in their lungs and digestive system. The symptoms usually become apparent in the early childhood of one that has the condition. There are only about 200,000 cases of Cystic Fibrosis each year in the U.S. There is no cure to the illness, medicine is required. Even though there is no cure, people can still live a normal life with the disease. Lisa Bentley is a Canadian triathlete who won 11 ironman competitions, something most people without Cystic Fibrosis can't do. Albert Einstein is also said to have had Cystic Fibrosis. Clearly he did not let that hold him back since he went on to be arguably one of the best scientists of all time. Nolan Gottlieb was a Division II college basketball player who was diagnosed with Cystic Fibrosis, he is now a substitute teacher in Dublin, Georgia.

Symptoms of Cystic Fibrosis

Some symptoms of Cystic Fibrosis are shortness of breath, salty tasting skin, poor weight gain in spite of healthy appetite, and persistent coughing sometimes involving phlegm. People living with Cystic Fibrosis have trouble gaining weight because their pancreas has trouble absorbing the vitamins that they ingest through food, making it harder for someone living with the disease to gain weight. This disease is accumulated through a mutation on the CFTR protein, which leads to failure to transport chloride ions and water into and out of cells. This effects the salt and water balance on epithelial surfaces (Lungs, Pancreas). Someone without the disease would not have this mutation and they would have no problems absorbing vitamins through their pancreas and they do not have a thick mucus in their lungs.

Karyotype of CF

Inheritance and mutation of Cystic Fibrosis

This disease is caused by mutations to the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR is a plasma membrane protein. In order for someone to have Cystic Fibrosis, they must have two copies (one from each parent of the defective CF gene). If two people who are both carriers of the defective CF gene have a child, there is a 25% chance that their child will have Cystic Fibrosis. There is a 50% chance the child will be a carrier but will not have the disease and a 25% chance that the child will not be a carrier of the disease.

Diagnosis/Treatment/ and Ethical Implications

There is a very wide range on the severity someone may experience with Cystic Fibrosis, so there is no one treatment plan. However, there are many different ways that someone may treat Cystic Fibrosis. One way that people with CF clear the thick mucus from their lungs is by using an inflatable vest that vibrates at high frequencies. This loosens the mucus and makes it thinner. Pancreatic enzyme supplements may also be taken to help the pancreas absorb more vitamins, making it easier for someone with CF to help gain and maintain weight. I didn't find any Ethical Implications.

Bibliography

"CFF Homepage." About Cystic Fibrosis. Web. 20 Mar. 2016.

"Cystic Fibrosis - Just One Small Change in a Protein." Cystic Fibrosis - Just One Small Change in a Protein. Web. 20 Mar. 2016.

"Genetics and Nutrition." NCHPEG. Web. 20 Mar. 2016.