Cystic Fibrosis: Managing Genetic Disease And Infertility
Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. It causes these fluids to become thick and sticky. They then plug up tubes, ducts and passageways.
Symptoms vary and can include cough, repeated lung infections, inability to gain weight and fatty stools.
Treatments may ease symptoms and reduce complications. Newborn screening helps with early diagnosis.
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.
Today, because of improved medical treatments and care, more than half of people with CF are age 18 or older. Many people with CF can expect to live healthy, fulfilling lives into their 30s, 40s, and beyond.
In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to 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 infections, inflammation, respiratory failure, and other complications. For this reason, avoiding germs is a top concern for people with CF. 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.
Symptoms of CF
People with CF can have a variety of symptoms, including: Very salty-tasting skin, persistent coughing, at times with phlegm, frequent lung infections including pneumonia or bronchitis and wheezing or shortness of breath.
Others are poor growth or weight gain in spite of a good appetite, frequent greasy, bulky stools or difficulty with bowel movements and nasal polyps.
The rest are chronic sinus infections, clubbing or enlargement of the fingertips and toes, rectal prolapse and male infertility.
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 centre.
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.