Information on cystic fibrosis
What is cystic fibrosis?
Cystic fibrosis is a genetically inherited disease that causes thick mucus to be produced in the lungs and digestive system. It can lead to serious respiratory failure, digestive complications, slow growth rates and infertility. According to the Cystic Fibrosis Foundation, 30,000 people in the United States and 70,000 people in the world have cystic fibrosis.
What are the causes of cystic fibrosis?
The causes of cystic fibrosis are purely genetic. A mutation of a single gene affects a protein called the "Cystic Fibrosis Transmembrane Conductance Regulator," or CFTR, and this mutation is responsible for all the symptoms of cystic fibrosis. The CFTR monitors passage of chloride ions within the body. Chloride ions help the movement of water through cells, and when they are disrupted by the mutation of the CFTR, normally produced mucus becomes thick and slimy rather than thin and freely moving. It then clogs passages in the body.
What are the symptoms of cystic fibrosis?
Cystic fibrosis symptoms include respiratory problems such as shortness of breath, coughing with phlegm and chronic lung infections. Difficulty in gaining weight and salty-tasting skin can also be symptoms of cystic fibrosis. Bowel movements are often difficult for people with cystic fibrosis.
Is there cystic fibrosis testing?
When symptoms of cystic fibrosis are identified, several methods of testing are available to determine if the CFTR mutation is present. One method of cystic fibrosis testing is the sweat test, in which the individual's sweat is chemically analyzed for higher sodium and chloride content.
The cystic fibrosis genetic test can be used to determine if an individual is a carrier of the CFTR mutation. Parents might use the cystic fibrosis genetic test to determine the probabilities of passing mutations or the disease onto their children.
Cystic fibrosis is diagnosed very early, typically before age two. Furthermore, the Cystic Fibrosis Foundation recommends that all newborns be screened for cystic fibrosis so that they may benefit from early diagnosis.
Is there cystic fibrosis treatment?
Treatments for cystic fibrosis include therapy techniques designed to loosen the thick mucus in the airways. These include body positions and a vibrating vest that helps agitate the mucus.
Several inhalation medications and antibiotics can also be used as cystic fibrosis treatment. Proper diet and nutrition, administered by professionals, can also diminish the harmful symptoms of cystic fibrosis.
What's new in cystic fibrosis research?
The Cystic Fibrosis Foundation is highly involved with research toward treating and curing cystic fibrosis. Over twenty medications and other treatments are currently in development by the Cystic Fibrosis Foundation. Ten research centers are largely supported by the Foundation, and continuous progress and advancement is being made toward finding better treatments.
When the Cystic Fibrosis Foundation began its work, patients were not expected to survive past childhood, but the current median survival age is 37 years.
To find out more about the Cystic Fibrosis Foundation and how you can help the cause, visit http://www.cff.org.
By Shane Hampton