Illness & Conditions - Health Conditions
What is cystic fibrosis?
Cystic fibrosis is a genetic disease that causes mucus in the body to become thick and sticky. This glue-like mucus builds up and causes problems in many of the body's organs, especially the lungs and the pancreas . People who have cystic fibrosis can have serious breathing problems and lung disease. They can also have problems with nutrition, digestion, and growth. The disease generally gets worse over time.
The life expectancy for people with cystic fibrosis has been steadily increasing.
What causes cystic fibrosis?
Cystic fibrosis is one of the most common genetic disorders in white children in the United States and Canada. It's caused by a change, or mutation, in a gene . The changed gene is passed down in families. To pass on this disease, both parents must be carriers of the changed gene.
What are the symptoms?
Cystic fibrosis is usually diagnosed at an early age. The symptoms aren't the same for everyone. But some common symptoms in a baby who has cystic fibrosis include:
Other symptoms may also develop in childhood, such as:
How is cystic fibrosis diagnosed?
The doctor will likely notice the signs of cystic fibrosis during a routine exam. Some states routinely screen newborn babies for cystic fibrosis. Screening tests look for a certain health problem before any symptoms appear.
If your child has a positive newborn screening test or symptoms of cystic fibrosis, your doctor will order a sweat test to see how much salt is in your child's sweat. People with cystic fibrosis have sweat that is much saltier than normal. The doctor may also suggest a genetic test. Finding a high amount of salt in two sweat tests or finding certain changed genes will confirm a diagnosis.
How is it treated?
The types of treatment your child receives depends on what kinds of health problems the cystic fibrosis is causing and how your child's body responds to different types of treatment. Doctors usually recommend a combination of medicines, home treatment methods (including respiratory and nutritional therapies), and other specialized care to manage the disease.
Frequently Asked Questions
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Cystic fibrosis occurs when a child inherits a changed (mutated) gene from both parents. The changed gene causes problems with the way salt and water move in and out of the cells that make mucus , causing the mucus to be thick and sticky. This kind of mucus makes it hard for the body to keep organs and lungs clean and healthy.
Many people don't know they have the changed gene. If you are the parent of a child who has cystic fibrosis, it is important to remember that nothing you did caused the disease.
Symptoms of cystic fibrosis are usually caused by the production of thick, sticky mucus . Symptoms vary from person to person. They aren't always obvious in childhood.
Symptoms of cystic fibrosis in a baby or young child may include:
Over time, symptoms may get worse and cause problems such as:
More symptoms may develop during late childhood or early adulthood. They include:
Although cystic fibrosis generally follows certain patterns, each person's symptoms depend on what is happening with his or her mucus-producing cells. These kinds of cells are found throughout the body in many different organs and systems, including the:
The life expectancy for people with cystic fibrosis has been steadily increasing. On average, people who have cystic fibrosis live into their mid-to-late 30s. But new treatments are helping some people to live into their 40s and longer. People who have a mild form may have a normal life expectancy.
There is no cure. But experts are hopeful that the discovery of the cystic fibrosis gene defect may soon lead to a cure.
What Increases Your Risk
When To Call a Doctor
It is important to diagnose and treat cystic fibrosis early. Call your doctor if your child:
Call your doctor if your child who has been diagnosed with cystic fibrosis gets worse in any way. Typically, this is when your child:
Watchful waiting is a wait-and-see approach. It's not a good idea for people who have cystic fibrosis. If your child has any signs of cystic fibrosis, even if they seem to be mild, call the doctor right away.
Who to see
The following doctors can diagnose and treat cystic fibrosis:
Other health professionals may also be involved in your child's care:
Cystic fibrosis care centers offer the best, most comprehensive treatment available by addressing medical, nutritional, and emotional needs. You can find one by contacting the Cystic Fibrosis Foundation at www.cff.org.
To prepare for your appointment, see the topic Making the Most of Your Appointment.
Exams and Tests
Most people who have cystic fibrosis have signs of it when they are children. Tests to diagnose cystic fibrosis can be done at any time—before pregnancy, during pregnancy, right after birth, in childhood, or in adulthood.
A medical history and a physical exam are often the first steps in diagnosing cystic fibrosis, followed by screening or lab tests.
The diagnosis of cystic fibrosis requires one of the following:
Also, there must be at least one of the following:
Monitoring cystic fibrosis
Certain tests can help your doctor monitor your child's cystic fibrosis. These tests include:
Both newborns and adults can be tested for the changed (mutated) gene that causes cystic fibrosis. These tests include:
If you are interested in a genetic test for cystic fibrosis, talk with your doctor about the test. Genetic counseling can help you understand your test results. Genetic testing may involve certain ethical, legal, and religious issues.
After a child is diagnosed, a team of health professionals will build a treatment plan based on the child's specific health problems. Following a treatment plan will help your child live a longer, healthier life.
Your child will likely have ongoing respiratory therapy, digestive therapy, and treatment with medicines such as antibiotics. Regular medical care, home treatment such as postural drainage , and taking steps to reduce infection can help people with cystic fibrosis lead relatively normal lives.
The best treatment available is generally found at cystic fibrosis care centers. These centers address the medical, nutritional, and emotional needs. You can find one by contacting the Cystic Fibrosis Foundation at www.cff.org.
Doctor visits and immunizations
Regular visits with the team of health professionals involved in your child's care are important. Your doctor will want to make sure that your child is eating properly and is gaining weight and growing at a normal rate. The doctor will record your child's weight, height, and head size in order to keep track of how your child is developing over time.
Lab tests can help your doctor know how serious the disease is and how it is affecting your child's body.
Your doctor will ask you about your child's immunizations and will schedule any shots that are needed. Children with cystic fibrosis should have all the recommended shots, plus pneumococcal shots. To learn more, see the topic Immunizations.
Respiratory therapy is any treatment that slows down lung damage and improves breathing. The focus of this therapy is on reducing infection and getting rid of mucus to keep the lungs healthy. Medicines may be used to control the amount and thickness of mucus.
Other ways to help remove mucus from the lungs involve certain types of movements, coughing, or exercises known as airway clearance techniques.
People with severe lung disease may need to use oxygen at home.
This treatment works to replace certain digestive enzymes, to make sure the body absorbs all the vitamins and minerals it needs, and to prevent or treat intestinal blockages. Digestive therapy involves:
Serious cystic fibrosis problems or complications occur when the respiratory system or digestive system becomes damaged. Bronchiectasis , which is caused by long-lasting airway inflammation, is common.
Most people who have complications will need to stay in the hospital. Treatment for complications may include medicines or surgery, depending on the person's age and symptoms.
The doctor may do tests, such as a chest X-ray , to know what kinds of problems your child is having.
Other treatments for complications from cystic fibrosis may include:
Home care for cystic fibrosis
Home treatment is very important. It can make a person with cystic fibrosis feel better and live longer. Here are some things you can do at home, or help your child do, to help prevent more serious health problems like lung infections:
If your newborn has been diagnosed with cystic fibrosis, avoid placing him or her in day care for at least 6 months to 1 year, if possible. Care for your baby at home.
As children with cystic fibrosis get older, it is important for them to learn how to help care for themselves. Even though it can be hard to follow a treatment plan every day, there are many benefits of home treatments. Skipping a treatment may not make a person feel worse right away. But it raises the chances of having more serious problems later.
Handling the challenges of caring for a child who has cystic fibrosis can be difficult. Take good care of yourself, physically and emotionally, so that you can give your child the best care possible.
Many people with cystic fibrosis and their families need emotional support to help them live with this genetic disease. Support groups, counseling , and education about the disease can be very helpful not only for people who have cystic fibrosis but also for their families.
It is also important to talk about the kind of medical procedures you want or don't want for yourself or for your child.
Research for new treatments
Medical researchers are looking at gene transfer therapy. It involves introducing healthy genes into the lung cells of people who have cystic fibrosis.
Researchers are also investigating protein repair therapy, or protein assist therapy. This treatment involves taking medicines that help the defective protein work more normally to allow a small amount of salt and water to move out of cells.
Gene transfer and protein repair therapies are in the experimental, developmental stages. Clinical trials are being conducted.
Medicines to treat infections
Medicines to open airways in the lungs or keep them open
Medicines to control the amount and thickness of mucus
Medicines to reduce inflammation
Medicines to replace the effect of digestive enzymes
A small number of people with cystic fibrosis have a certain changed (mutated) gene called the G551D mutation. If you have this changed gene, the medicine ivacaftor (Kalydeco) can target the genetic cause of your lung problems and may help improve lung function. Talk to your doctor if you want more information about it.
What to think about
Some medicines work better for some people than for others. A medicine that works well for one person may not work for someone else. It can take time to find the medicines that work best for you or your child.
Surgery may be needed to treat complications of cystic fibrosis. Procedures may include:
If your child isn't able to get all the nutrients he or she needs from food, a feeding tube may be placed in your child's stomach.
What to think about
Lung transplant surgery is generally recommended only for people who have severe lung damage, because the risks can be greater than the benefits. Not everyone is a good candidate for an organ transplant. If tests show that you are a good candidate, you are put on a waiting list. You may have to wait days, months, or years for your transplant. Be patient, and ask your doctor what you can do while you're waiting. Guidelines from the United Network for Organ Sharing (UNOS) are intended to shorten the wait time for donor lungs.
For more information on transplants, see the topic Organ Transplant.
Other Places To Get Help
Last Revised: June 15, 2011
Elkins MR, et al. (2006). A controlled trial of long-term inhaled hypertonic saline in patients with cystic fibrosis. New England Journal of Medicine, 354(3): 229–240.
Wark P, McDonald VM (2009). Nebulised hypertonic saline for cystic fibrosis. Cochrane Database of Systematic Reviews (2).
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