Cystic fibrosis (CF) is an inherited life-threatening disease that affects many organs. It causes changes in the electrolyte transport system causing cells to absorb too much sodium and water. CF is characterized by problems with the glands that make sweat and mucus. Symptoms start in childhood. On average, people with CF live into their mid to late 30.
CF affects various organ systems in children and young adults, including the following:
Some people can carry the CF gene without being affected by the disease. They usually do not know that they are carriers.
The abnormal electrolyte transport system in CF causes the cells in the respiratory system, especially the lungs, to absorb too much sodium and water. This causes the normal thin secretions in the lungs to become very thick and hard to move. These thick secretions increase the risk for frequent respiratory infections.
Recurrent respiratory infections lead to progressive damage in the lungs, and eventually death of the cells in the lungs.
Because of the high rate of infection in the lower respiratory tract, people with CF may develop a chronic cough, blood in the sputum, and often even have a collapsed lung. The cough is usually worse in the morning or after activity.
People with CF also have upper respiratory tract symptoms. Some have nasal polyps that need surgical removal. Nasal polyps are small protrusions of tissue from the lining of the nose that can block and irritate the nasal cavity. People with CF also have higher rates of sinus infections.
CF mainly affects the pancreas. The pancreas secretes substances that aid digestion and help control blood sugar levels.
The secretions from the pancreas also become thick and can clog the ducts of the pancreas. This may cause a decrease in the secretion of enzymes from the pancreas that normally help digest food. A person with CF has trouble absorbing proteins, fats, and vitamins A, D, E, and K.
The problems with the pancreas can become so severe that some of the cells in the pancreas die. Over time, this may lead to glucose intolerance and Cystic Fibrosis-Related Diabetes (CFRD), a unique type of insulin-dependent diabetes.
The symptoms of CF that may be due to involvement with the GI tract include:
The liver may also be affected. A small number of people may develop liver disease. Symptoms of liver disease include:
Most males with CF have blockage of the sperm canal. This is called congenital bilateral absence of the vas deferens (CBAVD). This results from the thick secretions clogging the vas deferens and keeping them from developing properly. It causes infertility because sperm can't travel out of the body. There are some newer techniques that allow men with cystic fibrosis to have children. These should be discussed with your healthcare provider. Women also have an increase in thick cervical mucus that may lead to a decrease in fertility, although many women with CF are able to have children.
Cystic fibrosis (CF) is a genetic disease. This means that CF is inherited.
Mutations in a gene called the CFTR (cystic fibrosis conductance transmembrane regulator) gene cause CF. The CFTR mutations causes changes in the body’s cell’s electrolyte transport system. Electrolytes are substances in blood that are critical to cell function. The main result of these transport system changes are seen in the body secretions, such as mucus and sweat.
The CFTR gene is quite large and complex. There are many different mutations in this gene that have been linked to CF.
A person will be born with CF only if 2 CF genes are inherited–one from the mother and one from the father.
Cystic fibrosis (CF) is inherited, and a person with CF had both parents pass the altered gene to them. The birth of a child with CF is often a total surprise to a family, since most of the time there is no family history of CF.
All U.S. states require that newborns be tested for cystic fibrosis (CF). This means that parents can know if their baby has the disease and can take precautions and watch for early signs of problems.
The following are the most common symptoms of CF. However, people may experience symptoms differently, and the severity of symptoms can vary, too. Symptoms may include:
Many other medical problems can point to cystic fibrosis, as well. These include:
The symptoms of CF differ for each person. Infants born with CF usually show symptoms by age 2. Some children, though, may not show symptoms until later in life. The following signs are suspicious of CF, and infants having these signs may be further tested for CF:
The symptoms of CF may resemble other conditions or medical problems. See a healthcare provider for a diagnosis.
Most cases of cystic fibrosis (CF) are found during newborn screening. In addition to a complete medical history and physical exam, tests for CF include a sweat test to measure the amount of sodium chloride (salt) present. Higher than normal amounts of sodium and chloride suggest CF. Other tests depend on which body system is affected and may include:
For babies, who do not produce enough sweat, blood tests may be used.
There is no cure for CF. Goals of treatment are to ease symptoms, prevent and treat complications, and slow the progress of the disease.
Treatment generally focuses on the following 2 areas:
This may involve:
Lung transplant may be a choice for people with end-stage lung disease. The type of transplant done is usually a heart-lung transplant, or a double lung transplant. Not everyone is a candidate for a lung transplant. Discuss this with your healthcare provider.
CF has some serious complications, including:
Organ transplant may be needed for people with end-stage disease.
Cystic fibrosis (CF) is caused by an inherited gene mutation (change). Testing for the CF gene is recommended for anyone who has a family member with the disease, or whose partner is a known carrier of CF or affected with CF.
Testing for the CF gene can be done from a small blood sample or from a cheek swab. This is a brush rubbed against the inside of your cheek to get cells for testing. Labs generally test for the most common CF gene mutations.
There are many people with CF whose mutations have not been identified. In other words, all of the genetic errors that cause CF have not been discovered. Because not all mutations are known, a person can still be a CF carrier even if no mutations were found by testing.
There are limitations of CF testing. But, if both parents have the CF gene, they have some choices: