WHAT IS CYSTIC FIBROSIS?
Cystic fibrosis (CF) is the most common fatal genetic disease in the US today.
Cystic fibrosis is a progressive, genetic digestive and pulmonary disease that causes persistent lung infections and limits the ability to breathe over time. It affects the way your body makes mucus, a substance that helps your organs and systems work. CF is caused by a change, or mutation, in a gene called CFTR (cystic fibrosis transmembrane conductance regulator). This gene controls the flow of salt and fluids in and out of your cells. If the CFTR gene doesn’t work the way it should, a sticky mucus builds up in your body. Mucus should be thin and slippery, but when you have CF, it becomes thick and glue-like. This blocks tubes and ducts throughout your body.
There are over 2000 different genetic mutations causing cystic fibrosis. The most common mutations attack the lungs and digestive system. This results in frequent, severe lung infections, which eventually kill the lungs, as well as halting the production of pancreatic enzymes necessary for digestion and nutritional absorption.
Although there is no cure, genetic research has produced several medications that have found increasing success in treating the symptoms of the disease. These medications are very expensive, and must be taken every day together with enzyme supplements, antibiotics, special vitamin supplements and mucolytics. In addition, most young people with CF must do chest physiotherapy and inhalation therapy several times each day in order to maintain optimum health.
Cystic Fibrosis (CF)
It affects about 40,000 people in the United States, and occurs in approximately one in every 2,000 live births.
CF CAUSES
Cystic fibrosis is caused by a change, or mutation, in a gene called CFTR (cystic fibrosis transmembrane conductance regulator). This gene controls the flow of salt and fluids in and out of your cells. If the CFTR gene doesn’t work the way it should, the mucus in various organs become thick and sticky.
To get CF, you have to inherit the mutated copy of the gene from both of your parents. Ninety percent of those with affected have at least one copy of the F508del mutation.
If you inherit only one copy, you won’t have any symptoms, but you will be a carrier of the disease. That means there’s a chance you could pass it to your children.
About 10 million Americans are CF carriers. Every time two CF carriers have a baby, there’s a 25% (1 in 4) chance that their baby will be born with CF.
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR Protein become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride -- a component of salt -- to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.
- In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infection, inflammation, respiratory failure, and other complications.
- In the pancreas the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients resulting in malnutrition and poor growth.
- In the liver, the thick mucus can block the bile duct, causing liver disease.
- In men, CF can affect their ability to have children.
CF DIAGNOSIS
Diagnosing cystic fibrosis is a multistep process, and should include a newborn screening, a sweat test, a genetic or carrier test and a clinical evaluation at a CF -accredited care center. Although most people are diagnosed with CF by the age of 2, some are diagnosed as adults. A CF Specialist can order a sweat test and recommend additional testing to confirm a CF diagnosis.
The Cystic Fibrosis Association of North Dakota has provided a list of websites for your review.*
*The Cystic Fibrosis Association of North Dakota has provided this information and is not responsible for the content on these sites.
