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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.
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.
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:
Babies in the United States and Canada are tested for cystic fibrosis right after birth. Screening tests look for a certain health problem before any symptoms appear. The doctor may also notice the signs of cystic fibrosis during a routine exam.
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.
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.
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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 certain organs 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 throughout the body. 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.
Even though cystic fibrosis can't be cured, the treatments continue to get better. And there are new treatments that target the cystic fibrosis gene defect.
Cystic fibrosis is a genetic disorder. It is an autosomal recessive disease. This means that to get the disease, you must inherit the changed (mutated) gene from both parents. Keep in mind:
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.
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.
Tests can help find out if a person has cystic fibrosis or has the changed gene that can be passed on to a child. Adults may want to get tested during a pregnancy or when they are planning for a pregnancy. People can be tested at any age to see if they have cystic fibrosis.
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:
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.
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. 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 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:
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.
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. Talk to your doctor about clinical trials for these and other new treatments being studied.
Cystic fibrosis is a genetic disorder that cannot be prevented. But there are many things you can do to help your child live a happy and healthy life. To learn more, see the Treatment Overview.
Medicines for cystic fibrosis help keep the lungs as healthy as possible, reduce and control mucus in the lungs, and replace digestive enzymes.
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
Medicines to correct mutated genes
These medicines cost a lot, but there may be programs to help pay for them.
Talk to your doctor if you want to know more.
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.
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.
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Current as of: May 27, 2020
Author: Healthwise StaffMedical Review: John Pope MD - PediatricsKathleen Romito MD - Family MedicineR. Steven Tharratt MD, MPVM, FACP, FCCP - Pulmonology, Critical Care Medicine, Medical Toxicology
Current as of: May 27, 2020
Author: Healthwise Staff
Medical Review:John Pope MD - Pediatrics & Kathleen Romito MD - Family Medicine & R. Steven Tharratt MD, MPVM, FACP, FCCP - Pulmonology, Critical Care Medicine, Medical Toxicology
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