Cystic Fibrosis
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Cystic Fibrosis is a horrible Disease that not many people know about unless they are diagnosed with it or no someone who is. More people should be informed of what can be expected from the illness. Its important for you to know that one in 25 people in the US Alone are carriers for Cystic Fibrosis and the only way to be infected with the disease is to inherit the abnormal gene from a relative. To fully understand Cystic Fibrosis were going to look into the Disease itself and who it affects, Testing for the disease, and potential treatments.
According to the Medline Plus Medical encyclopedia, ” Cystic Fibrosis is an inherited disease that causes thick sticky mucus to build up in the lungs and digestive track. Its the most Common chronic type of lung disease in children and young adults, Which may result in an early death. There is no cure. Both men and Women are equally able to inherit the disease, although ethnicity does play a role in how great a chance you have of being a CF Carrier. Caucasion and Ashkenazi Jewish people have a 1/ 25 chance of being a carrier, Hispanic people a 1/46 chance, African American people a 1/ 65 chance, and Asian people a 1/ 90 chance of carrying the abnormal gene that causes Cystic Fibrosis. The name of the Cystic fibrosis causing gene is the Cystic Fibrosis Transmembrane Conductance Regulator, or the CFTR Gene. This defective gene produces a protein that causes the thick mucus and incredibly salty sweat which are the most noticeable effects of CF, however the most common areas of the body affected are the Lungs, Pancreas, Liver, Intestines, Sinuses, and Sexual organs. Now that Ive explained the disease and what causes it lets look at testing.
Testing for CF can be done before a child is even born, through an Amneocentesis test. This is where a hollowed out needle is inserted through the abdominal wall and into the uterus to collect amneonic fluid from around the fetus to check for the CFTR gene. A Chorionic Villus biopsy test can be preformed by a doctor by conducting an ultrasound to insert a very thin tube through the cervix to the uterus and remove a small portion of the placenta to be tested for CF. A Trypsinogen test is preformed as a new born baby screening to check the babys risk of having of having CF. This test is often ordered when a child is not producing enough sweat to do a Sweat Chloride test. The Sweat Chloride test is the most common and how most parients with CF were diagnosed instead of any type of DNA testing such as blood tests. The main reasons to be tested for the CFTR gene are if there is a family history of the disease existing or you are planning a pregnancy. If it runs in your family the chances of you carrying the gene are 100% if the CF patient is a parent or child., Siblings have a 67% chance, a niece or nephew has a 50% chance, the aunt or uncle has a 33%, and cousins of the patient have a 25% chance of being a carrier. Simply Carrying the CFTR Gene does not mean you have the disease. Now that weve discussed testing and why one might