Cystic Fibrosis is a genetic disease that causes damage to the lungs, digestive system, and other parts of the body. It affects the cells that release mucus to coat the organs and digestive tract and causes the mucus to become sticky and thick. The mucus is meant to lubricate the organs, but it becomes so thick that it plugs the tubes and ducts instead and makes it hard for the body to function properly.
Cystic fibrosis is caused by a genetic mutation. The mutation changes a protein that regulates the movement of salt in and out of the cells. The mucus becomes thick and causes the organs to malfunction. The mutation is inherited from parents who carry the gene. Each parent must carry the gene to pass along a copy of it to their child. If the child only inherits a copy from one parent, he or she will not inherit the disease but may be a carrier of it and pass it along to his or her children. There are many different mutations, and the severity of the mutation can determine the severity of the disease.
Cystic fibrosis screenings are performed on newborns, and most of the time, the disease is diagnosed before a person starts to exhibit any symptoms. The disease often becomes more severe over time, but in some cases, it can improve over time. Some people do not experience any symptoms until later in life. Some of the most common symptoms of the disease include:
Cystic fibrosis is usually caught early because hospitals regularly screen newborns for the disease. Blood tests are used to determine the level of immunoreactive trypsinogen or IRT in the blood. Genetic testing can also be done to determine if parents are carriers of the gene mutation. Sweat tests are commonly used to check or cystic fibrosis in older children and adults. An agent that causes sweating is applied to the skin, and the sweat is then collected and tested to see if it is saltier than normal.
There is no cure for cystic fibrosis, but it can be treated and controlled. It is important to monitor the disease closely. Treatment can be complex and is based on the severity of the disease. Treatment is focused on preventing infections from occurring in the lungs, thinning or reducing the amount of mucus in the lungs, preventing intestinal blockages, and providing proper nutrition. Many treatments are focused on reducing the symptoms and controlling the severity of the disease. Common treatment includes:
Thanks to better screening and treatment options, the prognosis for people with cystic fibrosis has gotten much better. With proper treatment and good nutrition, people who have cystic fibrosis can live to be in their 40s. As treatments continue to improve, the average lifespan of those with cystic fibrosis may increase.