Cystic fibrosis (CF) is a genetic disorder that affects the lungs and other organs, such as the pancreas, liver, and kidneys. People with cystic fibrosis produce abnormally thick and sticky mucus that clogs the lungs leading to persistent lung infections and breathing difficulties. The mucus prevents the release of digestive enzymes in the pancreas, impairing its ability to digest food. The primary symptoms of cystic fibrosis include high levels of salt in sweat, persistent cough with phlegm, wheezing, frequent lung infections, poor growth, weight loss, and infertility in men. Cystic fibrosis is life-threatening. It has no cure, but treatments can help its victims live long.
Cystic fibrosis diagnosis is based on specific symptoms such as high salt levels in sweat, a family history of CF, and results from various medical tests. Direct testing for CF can be done through a sweat test, genetic testing, or a nasal potential difference test. The most common test used to diagnose cystic fibrosis is the sweat test which measures the amount of salt in a person’s sweat. People with CF usually have higher than normal salt levels in their sweat. Genetic testing looks for mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A mutation in the CFTR gene leads to the production of an abnormal protein that cannot function properly, disrupting the salt and water balance in the cells of the lungs and other organs. People with CF have thick and sticky mucus in the lungs and the digestive tract. The nasal potential difference test measures the electrical potential difference across the cell membranes in the nose. It can be used to diagnose CF in people who do not have the CFTR gene mutation (De Boeck, 2020).
Cystic fibrosis is mainly caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene is responsible for producing the cystic fibrosis transmembrane regulator (CFTR) protein, which controls the flow of salt and fluids in and out of body cells. A change in this gene leads to the production of an abnormal protein that cannot function properly, disrupting the salt and water balance in the cells. An imbalance in the salt and water levels in cells leads to the buildup of sticky mucus in the body. The mucus clogs the lungs leading to serious lung infections, and blocks the pancreas impairing its ability to digest food as it prevents the production of digestive enzymes (McKelvey, Weldon, McAuley, Mall, & Taggart, 2020). The mutation is believed to be caused by environmental and genetic factors.
Studies show that one person in 3,000 people in the general population of the United States is born with cystic fibrosis. Based on my ethnic background and family history, I’m not likely to be a carrier of cystic fibrosis. This is because the disorder is genetically transmitted; therefore, the absence of the condition in one’s family background indicates that one cannot be a carrier. If two parents who carry the CF gene have a child, the likelihood that the child will assume the CF gene is 50%. If I have a brother or a sister with CF and a white partner with no family history of CF and I have a child, there is a 25% chance that the child will be affected. A prenatal diagnosis of CF is possible. It can be made as early as ten weeks after conception. Research shows that parents who are given prenatal diagnosis can cope better with the consequences and make decisions.