Cystic fibrosis is a life-threatening disorder that causes severe damage to the lungs and digestive system.
An inherited condition, cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in cystic fibrosis, a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.
Cystic fibrosis is most common in white people of Northern European ancestry, but also occurs in Hispanics, African-Americans and some Native Americans. It is rare in people of Asian and Middle Eastern origin.
Although cystic fibrosis requires daily care, most people with the condition are able to attend school and work, and have a better quality of life than in previous decades. Recent improvements in screening and treatments mean most people with cystic fibrosis now live into their 20s and 30s, and some are living into their 40s and 50s.
In cystic fibrosis, the lungs fill with thick mucus — an ideal breeding ground for bacteria, fungi and viruses. Most people with cystic fibrosis have chronic infections in their lungs. ...
Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. In some children, symptoms begin during infancy. Other people may not experience symptoms until adolescence or adulthood.
Screening of newborns for cystic fibrosis is now performed in all 50 states. As a result, the condition is diagnosed within the first month of life, before symptoms develop. For people born before newborn screening was performed, it's important to be aware of the signs and symptoms of cystic fibrosis.
People with cystic fibrosis tend to have a higher than normal level of salt in their sweat. Parents often can taste the salt when they kiss their children. Most of the other signs and symptoms of cystic fibrosis affect the respiratory system or the digestive system.
Respiratory signs and symptoms
Digestive signs and symptoms
Frequent straining while passing stool can cause part of the rectum — the end of the large intestine — to protrude outside the anus (rectal prolapse). When this occurs in children, it may be a sign of cystic fibrosis. Parents should consult a physician knowledgeable about cystic fibrosis. Rectal prolapse in children may require surgery.
When to see a doctor
Seek immediate medical care if your child has difficulty breathing.
In cystic fibrosis, a defect (mutation) in a gene changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat. Many different defects can occur in the gene. The type of gene mutation is associated with the severity of the condition.
The affected gene, which is inherited from a child's parents, is a recessive gene. Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won't develop cystic fibrosis, but will be carriers and possibly pass the gene to their own children.
The sticky mucus associated with cystic fibrosis causes many complications, the most common in the respiratory, digestive and reproductive systems.
Respiratory system complications
Digestive system complications
Reproductive system complications
Although women with cystic fibrosis may be less fertile than other women, it's possible for them to conceive and to have successful pregnancies. Still, pregnancy can worsen the signs and symptoms of cystic fibrosis, so be sure to discuss the possible risks with your doctor.
Collapsed and normal lung
In a collapsed lung, air from the lung leaks into the chest cavity. A collapsed lung is a serious condition that can be life-threatening. The example shown is a complete left pneumothorax. Sometimes ...
Preparing for your appointment
Newborns in all 50 states are routinely screened for cystic fibrosis. For adults or older children who weren't screened at birth, make an appointment with your doctor if you or your child has signs or symptoms common to cystic fibrosis. After the initial evaluation, you may be referred to a doctor who specializes in cystic fibrosis.
Here's some information to help you prepare for your appointment, as well as what to expect from your doctor.
What you can do
What to expect from your doctor
Tests and diagnosis
Newborn screening and diagnosis
A newborn's IRT may be high because of premature birth or a stressful delivery. For that reason other tests are needed to confirm a diagnosis of cystic fibrosis:
The sweat test is usually done when the infant is a month old, to ensure the sample is large enough to be analyzed. The sweat test can determine if the infant carries the cystic fibrosis gene or has the condition. Testing should be done at a center specializing in cystic fibrosis.
Testing of older children and adults
Testing after diagnosis
Treatments and drugs
There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications. Close monitoring and early, aggressive intervention is recommended. Managing cystic fibrosis is complex, so consider obtaining treatment at a center that specializes in cystic fibrosis.
The goals of treatment include:
Chest physical therapy
Mechanical devices also can help loosen lung mucus. The options include:
Surgical and other procedures
Lifestyle and home remedies
There are many things you can do at home to minimize cystic fibrosis complications. Always talk to your doctor before starting home remedies.
Drink lots of fluids
Keep immunizations up to date
Coping and support
If you or someone you love has cystic fibrosis, you may experience strong emotions such as anger or fear. These issues are especially common in teens. Talking openly about how you feel can help. It may also help to talk with others who are dealing with the same issues.
That might mean joining a support group for parents of children with cystic fibrosis. Older children with the disorder may want to join a cystic fibrosis group to meet and talk with others who have the disease. Psychologists are often an important part of the care team as the child approaches the teen years.
If you or your partner has close relatives with cystic fibrosis, you both might want to undergo genetic testing before having children. The test, which is performed in a lab on a sample of blood or saliva, can help determine your risk of having a child with cystic fibrosis.
If you're already pregnant and the genetic test shows that your baby may be at risk of cystic fibrosis, your doctor can conduct additional tests on your developing child.
Genetic testing isn't for everyone. Before you decide to be tested, you should talk to a genetic counselor about the psychological impact the test results might carry.
Last Updated: 2012-06-13
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