Cystic Fibrosis: Link Between Genetic Disease And Infertility
What Is Cystic Fibrosis? 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.
Genetics and Diagnosis
Cystic fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene – one copy from each parent. Both parents must have at least one copy of the defective gene.
People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child. The chances are: 25 percent (1 in 4) the child will have CF; 50 percent (1 in 2) the child will be a carrier but will not have CF and 25 percent (1 in 4) the child will not be a carrier and will not have CF.
The defective CF gene contains a slight abnormality called a mutation. There are more than 1,700 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier.
Diagnosing cystic fibrosis is a multistep process, and should include a newborn screening, sweat test, genetic or carrier test, clinical evaluation at a CF Foundation-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.
What to Expect
Cystic fibrosis is a complex disease. The types of symptoms and how severe they are can differ widely from person to person. Many different factors can affect a person’s health and the course the disease runs, including your age when you are diagnosed.
Managing CF
The types of CF symptoms and how severe they are can differ widely from person to person. Therefore, although treatment plans can contain many of the same elements, they are tailored to each person’s unique needs.
Each day, people with CF complete a combination of the following therapies:
- Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs.
- Inhaled medicines to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer and include antibiotics to fight lung infections and therapies to help keep the airways clear.
- Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with CF also usually take multivitamins.
- An individualized fitness plan to help improve energy, lung function, and overall health
- CFTR modulators to target the underlying defect in the CFTR protein. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific mutations.