Cystic Fibrosis

Topic Overview

What is cystic fibrosis?

Cystic fibrosis is a 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, growth, and development. There is no cure for cystic fibrosis and the disease generally gets worse over time.

The life expectancy for people with cystic fibrosis has been steadily increasing over the past 40 years. On average, people who have cystic fibrosis live into their mid-to-late 30s, although new treatments are making it possible for some people to live into their 40s and longer.

What causes cystic fibrosis?

Cystic fibrosis is a genetic disorder. A child must inherit a specific gene from both parents to get cystic fibrosis.

What are the symptoms?

Cystic fibrosis is usually diagnosed at an early age. Although the symptoms are not the same for everyone, some common symptoms of a baby who has cystic fibrosis include:

• A blocked small intestine at birth, which prevents the baby from passing his or her first stool.
• Very salty sweat or skin.
• Diarrhea.
• Not growing or gaining weight the way that other children do.
• Breathing problems, lung infections, a cough that does not go away, and wheezing.

Other symptoms may also develop in childhood such as:

• Clubbing (rounding and flattening) of the fingers.
• Rectal prolapse (when part of the rectum protrudes from the anus).
• Growths (polyps) in the nose or sinuses.

How is cystic fibrosis diagnosed?

Most people who have cystic fibrosis have signs of it when they are children. In the United States, 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. Most of the time, two abnormal sweat tests will confirm a diagnosis.

How is it treated?

Experts have not yet found a cure for cystic fibrosis, but new and improved treatments help people who have cystic fibrosis live longer. 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. Most people combine medicines, home treatment methods (including respiratory and nutritional therapies), and other specialized care to manage the disease.

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Cause

Cystic fibrosis occurs when a child inherits a gene from both parents. This gene is called a cystic fibrosis transmembrane gene, and it codes for a protein called the cystic fibrosis transmembrane regulator (CFTR). CFTR causes problems with the way salt and water move in and out of 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.

If a child inherits the CFTR gene from only one parent, the child will not have cystic fibrosis but may be a carrier. This means the child could pass the disease on to his or her children.

Many people do not know they have the CFTR 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

Symptoms of cystic fibrosis are usually caused by the production of thick, sticky mucus. Symptoms vary from person to person and are not always obvious in childhood.

Early signs and symptoms

Symptoms of cystic fibrosis in a baby or young child may include:

• A blocked small intestine at birth, called a meconium plug or meconium ileus.
• Salty sweat or skin.
• Not wanting to eat, having little energy, or losing weight. This is sometimes called failure to thrive.
• Unusual bowel movements. This may include diarrhea that does not go away; large, greasy stools; very smelly stools; or constipation. If the intestines become blocked, the child's belly may stick out and the child may not be able to have a bowel movement.
• Breathing problems or getting tired easily while playing.
• A cough that does not go away or wheezing.

Later signs and symptoms

Over time, symptoms may get worse and result in:

• Coughing up mucus that sometimes has blood in it.
• Difficulty exercising or not being able to exercise.
• Rectal prolapse, when part of the rectum protrudes from the anus.

Additional symptoms may develop during late childhood or early adulthood, including:

• Clubbing (rounding and flattening) of the fingers.
• Growths (polyps) in the nose or sinuses.
• Not being able to have children (infertility).

What Happens

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:

• Lungs and respiratory system. People with cystic fibrosis have thick and sticky mucus that traps bacteria. This causes lots of lung infections and often, permanent lung damage.
• Pancreas and digestive system. The first sign of pancreas and digestive system problems may be a meconium plug that prevents the passing of a newborn's first stool. Within the first year, a child may also have diarrhea that does not go away or large, greasy, smelly stools. Mucus from cystic fibrosis can interfere with how the pancreas works, which then makes it hard for the child to absorb nutrients from food. As a result, the child may not gain weight and may even lose weight.
• Sweat glands. Parents of a newborn who has cystic fibrosis may notice that their baby has unusually salty skin. Cystic fibrosis can cause a person to become easily dehydrated or to have very low salt levels. This makes it very important for people with cystic fibrosis to drink lots of water and fluids. People with cystic fibrosis need extra salt, even when they are babies.
• Reproductive organs. More than 95% of men who have cystic fibrosis are unable to father a child (infertile).¹ Women who have cystic fibrosis can have successful pregnancies, but they may have more difficulty getting pregnant than other women.
• Skeletal system. People who have cystic fibrosis may have weaker bones than other people because their bones contain less minerals. Weakened bones can lead to bone fractures, osteopenia or osteoporosis. Cystic fibrosis can also cause swollen or painful joints (arthropathy or arthritis). These problems are more common in adults than in children.

Regular medical care, home treatment such as postural drainage, and attempts to reduce infection can help people with cystic fibrosis lead relatively normal lives. If symptoms of cystic fibrosis get worse, treatment in a hospital may be needed. Lung transplant surgery may be an option for people who have very severe lung disease.

Life expectancy

The life expectancy for people with cystic fibrosis has been steadily increasing over the past 40 years. On average, people who have cystic fibrosis live into their mid-to-late 30s, although new treatments are making it possible for some people to live into their 40s and longer. People who have a mild form of cystic fibrosis may have a normal life expectancy.

There is no cure for cystic fibrosis. But experts are hopeful that the discovery of the cystic fibrosis gene defect may soon lead to a cure.

What Increases Your Risk

Cystic fibrosis is a genetic disorder. Specifically, cystic fibrosis is an autosomal recessive disease. This means that to get the disease, you must inherit the defective gene from both parents. Keep in mind:

• If a person inherits the gene from only one parent, he or she will not develop cystic fibrosis but will be a carrier of the disease. Carriers may pass the cystic fibrosis gene defect onto their children.
• If you are planning a pregnancy and you are white, talk to your doctor about having a genetic test to determine your chances of having a child with cystic fibrosis. The disease is much more common in white people than in people of other races.
• The way that you eat, how much you exercise, whether you smoke, or the kind of environment you live in does not cause cystic fibrosis. But if you have cystic fibrosis, changes in your environment (such as not being around smokers) or changes in your behavior (such as eating the right kinds of foods) can help you feel better and live longer.

When To Call a Doctor

It is important to diagnose and treat cystic fibrosis early. Call your doctor if your child:

• Has frequent lung infections (pneumonia), colds, an ongoing cough, shortness of breath, or wheezing.
• Coughs up mucus that contains blood.
• Does not gain or maintain weight.
• Has smelly, large, greasy stools or diarrhea.
• Has salty-tasting skin or sweat.
• Tires easily during activity.
• Has rounded, flat fingertips (clubbing).

Call your doctor if your child who has been diagnosed with cystic fibrosis gets worse in any way. Typically, this is when your child:

• Has increased coughing or has a cough that is getting worse.
• Has new wheezing or has wheezing that is getting worse.
• Has more trouble breathing than usual.
• Has lost weight or is not gaining weight, without an explanation.
• Is having symptoms that you and your doctor have discussed as being more serious problems.

Watchful Waiting

Watchful waiting is a period of time during which you and your doctor observe your child's symptoms without using medical treatment. Watchful waiting is 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, see your doctor right away.

Who To See

The following health professionals can diagnose and treat cystic fibrosis:

• Pediatrician
• Family medicine doctor
• Pulmonologist
• Internist
• Gastroenterologist

Other health professionals may also be involved in your child's care:

• Respiratory therapist
• Physical therapist
• Registered dietitian
• Exercise physiologist
• Social worker
• Psychologist
• Pharmacist

Cystic fibrosis multidisciplinary specialist centers offer the best, most comprehensive treatment available by addressing the medical, nutritional, and emotional needs of people who have cystic fibrosis. There are more than 100 of these centers in the United States. You can locate one by contacting the Cystic Fibrosis Foundation.

To prepare for your appointment, see the topic Making the Most of Your Appointment.

Exams and Tests

Tests to diagnose cystic fibrosis can be done at any time-before pregnancy, during pregnancy, in childhood, or in adulthood. Genetic tests for couples who are planning a pregnancy or who are expecting a baby can help determine whether either person is a carrier of the gene that causes cystic fibrosis. Babies can be screened for cystic fibrosis shortly after they are born, especially if they have symptoms or are at risk of inheriting the cystic fibrosis gene. Most people who have cystic fibrosis have signs of it when they are children.

Diagnosis

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:

• Your child has one or more of the common symptoms, including:
  • A blockage of the small intestine at birth, called a meconium plug or meconium ileus.
  • Salty sweat or skin.
  • Not wanting to eat, having little energy, or losing weight. This is sometimes called failure to thrive.
  • Inflammation of the pancreas (pancreatitis).
  • Unusual bowel movements. This may include diarrhea that does not go away; large, greasy stools; very smelly stools; or constipation. If the intestines become blocked, the child's belly may stick out; and the child may not be able to have a bowel movement.
  • Breathing problems, getting tired easily during activity, or repeated infections such as bronchitis or sinusitis.
  • Wheezing and a cough that does not go away.

• A brother or sister who has cystic fibrosis.
• A positive newborn screening test. For this, a small amount of the baby's blood is tested to see how much of a digestive enzyme called immunoreactive trypsinogen (IRT) is present. Babies with cystic fibrosis have more IRT than normal.

In addition, there must be at least one of the following:

• Two positive sweat tests on different dates. Sweat tests measure the level of salt in sweat. People with cystic fibrosis have more than the normal amount of salt in their sweat.
• A positive genetic test for the genetic defect that is known to cause cystic fibrosis. Genetic testing can be done using blood or a sample from the mother's womb before birth (chorionic villus sampling or amniocentesis).
• An abnormal nasal potential difference test. This test uses electrodes on the lining of the nose to see how well salts flow into and out of cells.

Monitoring cystic fibrosis

Certain tests can help your doctor monitor your child's cystic fibrosis. These tests include:

• Lung function tests to determine how healthy the lungs are by checking how well air moves into and out of the lungs.
• A sputum culture to examine mucus samples and see what kinds of bacteria are causing any infections your child may have.
• A chest X-ray to take a picture of the chest including the heart and lungs.
• A CT scan to identify any serious disease in the lungs, pancreas, or other organs.
• Blood tests, such as glucose (blood sugar) level and liver function, to see if there are any complications of cystic fibrosis.
• A stool analysis to see how well your child is absorbing and digesting fat and other nutrients.
• An arterial blood gas analysis to measure the levels of oxygen and carbon dioxide in the blood to see how well the lungs are working.

Early Detection

Both newborns and adults can be tested for the gene that causes cystic fibrosis. These tests include:

• Newborn screening. Levels of immunoreactive trypsinogen (IRT), a digestive enzyme, are measured from a blood sample. High levels of IRT suggest cystic fibrosis. Some newborns may also have a genetic test for cystic fibrosis.
• Genetic test for adults. These tests identify the most common defects in the cystic fibrosis transmembrane regulator (CFTR) gene. Genetic testing can be done during pregnancy through chorionic villus sampling or amniocentesis. The test can also be done before pregnancy, to help couples determine whether either or both of them carry a defective CFTR gene.
  • If both parents carry the gene, there is a 25% (1-in-4) chance that their child will have no genetic problem, a 25% chance that their child will have cystic fibrosis, and a 50% (1-in-2) chance that their child will be a carrier.
  • If one parent is a carrier of the gene, the child will not have cystic fibrosis. But there is a 50% chance that the child will be a carrier.

If you are interested in a genetic test for cystic fibrosis, talk with your doctor about the test. You should also discuss genetic counseling, which helps make sure that you understand your test results.

Treatment Overview

Most people are diagnosed with cystic fibrosis before they are 1 year old. After a child is diagnosed, a team of health professionals will build a treatment plan based on the child's specific health problems. Treatment is different for everyone but usually involves a combination of medicines and home treatment. Home treatments include getting rid of mucus, eating healthy foods, and exercising to help prevent infections and complications. It can be challenging to follow a treatment plan, but doing so will help your child live a longer, healthier life.

The best treatment available is generally found at cystic fibrosis multidisciplinary specialist centers. These centers address the medical, nutritional, and emotional needs of people who have cystic fibrosis. There are more than 100 of these centers in the United States. You can locate one by contacting the Cystic Fibrosis Foundation.

Many people with cystic fibrosis and their families need emotional support to help them live with this life-shortening genetic disease. Support groups, counseling, and educating yourself about the disease can be very helpful.

Initial treatment

Usually, cystic fibrosis causes problems with both the respiratory and digestive systems, although sometimes it causes problems only in one or the other. Other parts of the body may also be affected. Tests such as a stool analysis, sputum culture, or lung function 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 schedule any necessary shots. Children with cystic fibrosis should have all the recommended shots in addition to pneumococcal and flu shots. For more information on the recommended schedule of immunizations for children, see the topic Immunizations.

Your doctor will want to make sure that your child is eating properly and is gaining weight and growing at a normal rate. He or she will record your child's weight, height, and head size in order to keep track of how your child is developing over time.

Your doctor may also talk to you about different therapies used to treat cystic fibrosis. These include:

Respiratory therapy. Respiratory therapy refers to 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 used in respiratory therapy include:

• Bronchodilators (such as albuterol or salmeterol), which are used to make breathing easier. Bronchodilators may also make it easier to cough up mucus.
• DNase (such as Pulmozyme), which is used to thin mucus in the lungs.
• Mucolytics (such as Mucomyst), to thin mucus in the lungs and also in the intestines. These are not used very much, because they can irritate the lungs.
• An inhaled saltwater solution (hypertonic saline), sometimes used to help clear mucus from the lungs. It is low-cost, and it may help reduce inflammation in the airways.^{2, 3}

Other ways to help remove mucus from the lungs involve certain types of movements, coughing, or exercises known as airway clearance techniques. These include:

• Postural drainage and chest percussion, to help your child cough up mucus from the lungs. For specific instructions, see:

  Cystic fibrosis: Helping your child cough up mucus.

• Deep breathing exercises, to help your child breathe out completely and strengthen the muscles used for breathing.
• Directed cough to help clear mucus by breathing and coughing in specific ways.
• Exercise. Aerobic exercise can actually improve how well the lungs work. Ask your doctor about what kinds of exercise your child should do.
• Alternate methods of airway clearance, such as using a positive expiratory pressure (PEP) mask, high-frequency chest compression vest, or Flutter valve. These methods use mechanical equipment to help clear mucus from the lungs.

Digestive therapy is another important part of initial treatment. This therapy 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:

• Digestive enzyme replacement therapy (such as with Creon or Pancrease), to help the intestines absorb nutrients from food.
• Nutritional therapy to help replace lost nutrients. This may include taking vitamins; eating high-calorie, high-fat foods; drinking nutritional drinks; receiving intravenous nutrient supplementation; and, in some cases, getting fed through a tube in the stomach.
• Preventing intestinal blockages with stool softeners (to avoid constipation) and enemas.

Antibiotics-medicines that kill bacteria that cause infections-are often used to treat cystic fibrosis. Some antibiotics may be prescribed to help prevent infections (such as TOBI [tobramycin] or Zithromax). Others may be prescribed to help fight infections (such as Cipro).

Ongoing treatment

Most ongoing treatment for cystic fibrosis focuses on controlling and reducing any problems or complications in the respiratory and digestive systems .

People with severe lung disease may need to use oxygen at home. Regular visits with the team of health professionals involved in your child's care are also important.

Oxygen therapy: Using oxygen at home

Doctors may do certain tests to help find out what kinds of problems your child is having. These tests may include:

• A sputum culture, to identify what kind of bacteria are present. This test helps your doctor prescribe the best type of antibiotic.
• Lung function tests, to see how healthy the lungs are by checking how well air moves into and out of the lungs.
• A stool analysis, to see how well the digestive system is working by checking how much fat is in the stool and whether certain enzymes are present.
• Blood sugar (glucose) tests, to check for diabetes.

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 his or her chances of having more serious problems later increase.

Respiratory therapy refers to any treatment that slows down lung damage and improves breathing. Respiratory therapy focuses on reducing infection and getting rid of mucus to keep the lungs healthy. Medicines used in respiratory therapy include:

• Bronchodilators (such as albuterol or salmeterol), which are used to make breathing easier. Bronchodilators may also make it easier to cough up mucus.
• DNase (such as Pulmozyme), which is used to thin mucus in the lungs.
• Mucolytics (such as Mucomyst), which are used to thin mucus in the lungs and also in the intestines. These are not used very much, because they can irritate the lungs.
• An inhaled saltwater solution (hypertonic saline), sometimes used to help clear mucus from the lungs. It is low-cost, and it may help reduce inflammation in the airways.^{2, 3}

Other ways to help remove mucus from the lungs involve certain types of movements, coughing, or exercises known as airway clearance techniques. These include:

• Postural drainage and chest percussion, to help your child cough up mucus from the lungs. For specific instructions, see:

  Cystic fibrosis: Helping your child cough up mucus.

• Deep breathing exercises, to help your child breathe out completely and strengthen the muscles used for breathing.
• Directed cough to help clear mucus by breathing and coughing in specific ways.
• Exercise. Aerobic exercise can actually improve how well the lungs work. Ask your doctor about what kinds of exercise your child should do.
• Alternate methods of airway clearance, such as using a positive expiratory pressure (PEP) mask, high-frequency chest compression vest, or Flutter valve. These methods use mechanical equipment to help clear mucus from the lungs.

Digestive therapy is another important part of ongoing treatment. This therapy 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:

• Digestive enzyme replacement therapy (such as with Creon or Pancrease), to help the intestines absorb nutrients from food.
• Nutritional therapy to help replace lost nutrients. This may include taking vitamins; eating high-calorie, high-fat foods; drinking nutritional drinks; receiving intravenous nutrient supplementation; and, in some cases, getting fed through a tube in the stomach.
• Preventing intestinal blockages with stool softeners (to avoid constipation) and enemas.

Antibiotics-medicines that kill bacteria that cause infections-are often used to treat cystic fibrosis. Some antibiotics may be prescribed to help prevent infections (such as TOBI [tobramycin] or Zithromax). Others may be prescribed to help fight infections (such as Cipro).

Treatment if the condition gets worse

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 have to stay in the hospital. Treatment for complications may include medicines or surgery, depending on the person's age and symptoms.

Some of the tests that help the doctor know what kinds of problems your child is having include:

• A chest X-ray, to look for signs of lung infection or other problems.
• A CT scan, to identify any serious disease in the lungs, pancreas, or other organs.

If complications develop, one or more of the following medications may be needed:

• Antibiotics, to treat infection
• Anti-inflammatories, (including nonsteroidal anti-inflammatory drugs (NSAIDs), membrane stabilizers, and corticosteroids, to reduce inflammation
• Bronchodilators and anticholinergics, to open airways in the lungs
• DNase (such as Pulmozyme) or, in rare cases, mucolytics, to control the amount and thickness of mucus and to reduce the chance of infection

Sometimes surgery is needed to treat complications of cystic fibrosis. Procedures may include:

• Chest tube drainage and possible thoracoscopy, to treat a collapsed lung (pneumothorax).
• A lung transplant.
• Repair of an intestine that has collapsed inside itself or the removal of a bowel obstruction.
• Removal of nasal polyps or endoscopic sinus surgery.
• Abdominal or perineal (anal) surgery for rectal prolapse , in rare cases.

Other treatments used to treat complications from cystic fibrosis may include:

• Blood transfusions and medicines to treat the bleeding (embolization therapy), if your child is coughing up large amounts of blood. Coughing up small amounts of blood is normal for people who have cystic fibrosis, but coughing up large amounts of blood can be life-threatening.
• Placement of a feeding tube into your child's stomach.
• Placement of a semipermanent intravenous (IV) tube in order to give your child antibiotics frequently without having to place a line in the vein each time.

As they grow older, adults who have cystic fibrosis can develop other serious conditions such as infertility or diabetes. These problems will also require treatment.

Palliative care

As your condition gets worse, you may want to think about palliative care. Palliative care is a kind of care for people who have illnesses that do not go away and often get worse over time. It is different from care to cure your illness, called curative treatment. Palliative care focuses on improving your quality of life-not just in your body, but also in your mind and spirit. Palliative care can be combined with curative care.

Palliative care may help you manage symptoms or side effects from treatment. It could also help you cope with your feelings about living with a long-term illness, make future plans around your medical care, or help your family better understand your illness and how to support you.

If you are interested in palliative care, talk to your doctor. He or she may be able to manage your care or refer you to a doctor who specializes in this type of care.

For more information, see the topic Palliative Care.

End of life

On average, people who have cystic fibrosis live into their mid-to-late 30s. New research and treatments combined with better care continue to help people live longer, healthier lives.

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 do not want for yourself or for your child.

For more specific information on end-of-life issues, see the topic Care at the End of Life. For more information on how to handle emotions associated with death, see the topic Grief and Grieving.

Prevention

Cystic fibrosis is a genetic disorder that cannot be prevented. But people who have cystic fibrosis can help prevent more serious health problems such as lung infections by:

• Keeping immunizations current. Children who have cystic fibrosis should have all the recommended immunizations in addition to pneumococcal and flu shots. For more information on the recommended schedule of immunizations for children, see the topic Immunizations.
• Not smoking and avoiding secondhand smoke.
• Using airway clearance techniques, such as postural drainage and chest percussion.
• Eating nutritious, high-calorie foods.
• Having regular checkups and frequent tests, and following their treatment plan.
• Seeking care from a cystic fibrosis specialty treatment center, if possible.

In addition, parents of a newborn who has been diagnosed with cystic fibrosis should care for the baby at home and avoid placing him or her in day care for at least 6 months to 1 year, if possible.

Home Treatment

Handling the challenges of caring for a child who has cystic fibrosis can be difficult. It is normal to feel guilty and overwhelmed by how hard it is and how much time it takes to care for a child who has a long-term, life-shortening illness. Counseling or support groups can help you deal with your feelings, as can educating yourself about the disease. Taking good care of yourself, physically and emotionally, will help you give your child with cystic fibrosis the best care possible.

Home treatment is a very important part of treating cystic fibrosis. Home treatment can make a person with cystic fibrosis feel better and live longer. Even though it can be challenging to follow a home treatment plan every day, there are many benefits of home treatment. If a treatment is skipped, the child may not feel any worse right away, but he or she has an increased chance of having more serious problems later. Specifically, home treatment can help:

• Clear mucus from the lungs.
• Prevent infection.
• Improve nutrition.
• Increase the child's energy level.

Airway clearance techniques

Health professionals, parents, siblings, or other caregivers can perform these techniques on a child who has cystic fibrosis. Teenagers and adults with cystic fibrosis can learn to do these techniques themselves.

• Postural drainage and chest percussion. Drainage and percussion help unstick mucus from the lungs so that it can be coughed out. For specific instructions, see:

  Cystic fibrosis: Helping your child cough up mucus.

• Deep breathing exercises. These breathing techniques help you exhale more completely by strengthening the stomach muscles used for breathing. Your health professional or respiratory therapist can teach you or your child how to do these exercises.
• Directed cough. Directed coughing is a specific pattern of breathing and coughing that helps clear mucus from the lungs. Your health professional or respiratory therapist can teach you or your child how to do these exercises.
• Alternate methods of airway clearance that use machines or other devices to help get rid of mucus.

Improving nutrition and energy

• Eat nutritious, high-calorie foods.
• Drink plenty of fluids.
• Add salt to foods, especially during hot weather.
• Exercise.

Medications

Medicines for cystic fibrosis help keep the lungs as healthy as possible, reduce and control mucus in the lungs, and replace digestive enzymes.

Medication Choices

Medicines for cystic fibrosis include:

Medicine to treat infections

Antibiotics (such as azithromycin, Keflex or Cipro, and TOBI [tobramycin])

Medicines to open breathing tubes in the lungs or keep them open

Bronchodilators (such as albuterol or salmeterol)

Anticholinergics (such as Atrovent)

Medicines to control the amount and thickness of mucus

DNase (such as Pulmozyme)

Mucolytics (such as Mucomyst)

Medicines to reduce inflammation

Nonsteroidal anti-inflammatory drugs (NSAIDs) (such as Motrin)

Membrane stabilizers (such as cromolyn or nedocromil)

Corticosteroids (such as prednisone, Medrol, or Flovent Diskus)

Medicines to replace the effect of digestive enzymes

Enzyme replacement therapy (such as Creon or Pancrease)

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

Surgery may be needed to treat complications of cystic fibrosis. Procedures may include:

• Chest tube drainage and possible thoracoscopy, to treat a collapsed lung (pneumothorax).
• Lung transplant, for people who have severe lung disease.
• Repair of an intestine that has collapsed inside itself or the removal of a bowel obstruction.
• Removal of nasal polyps or endoscopic sinus surgery.
• Abdominal or perineal (anal) surgery for rectal prolapse , in rare cases.

If your child is not able to get all the nutrients he or she needs from food, a feeding tube may be necessary.

People who need frequent intravenous (IV) antibiotics can have a semipermanent tube placed in the vein so that they do not need to have repeated placements of an IV needle.

Surgery Choices

Lung transplant

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. If you are a candidate for lung transplant, you may have to wait a long time for donor lungs (6 months to more than 4 years). But new guidelines from the United Network for Organ Sharing (UNOS) are likely to shorten the wait time for donor lungs.

For more information on organ transplants, see the topic Organ Transplant.

Other Treatment

Recent research has focused on treating the cause as well as the symptoms of cystic fibrosis. Medical researchers are currently looking at gene transfer therapy, which tries to correct the result of the gene defect that causes cystic fibrosis. Gene transfer therapy 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 therapy 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; and clinical trials are being conducted. For more information, see the Other Places to Get Help section of this topic for organizations to contact.

Other Places To Get Help

Organizations

Related Information

• Constipation, Age 11 and Younger
• Cystic Fibrosis Carrier Screening
• Dehydration
• Genetics
• Organ Transplant
• Palliative Care
• Respiratory Problems, Age 11 and Younger
• Respiratory Problems, Age 12 and Older

References

Citations

1. Boat TF (2004). Cystic fibrosis. In RE Behrman et al., eds., Nelson Textbook of Pediatrics, 17th ed., pp. 1437-1450. Philadelphia: Saunders.

2. 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.

3. Wark P, et al. (2007). Nebulised hypertonic saline for cystic fibrosis. Cochrane Database of Systematic Reviews (2). Oxford: Update Software.

Other Works Consulted

• ACOG Committee on Genetics (2002, reaffirmed 2006). Genetics and molecular testing. ACOG Technology Assessment in Obstetrics and Gynecology, 100(1): 193-211.

• Dovey ME (2006). Cystic fibrosis. In FD Burg et al., eds., Current Pediatric Therapy, 18th ed., pp. 457-461. Philadelphia: Saunders Elsevier.

• Kerby GS, et al. (2007). Bronchiectasis section of Respiratory tract and mediastinum. In WW Hay et al., eds., Current Pediatric Diagnosis and Treatment, 18th ed., pp. 509-510. New York: McGraw-Hill.

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