Top of the page Cystic Fibrosis Topic OverviewWhat 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: A blocked small intestine at birth. This
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? 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. 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 Learning about cystic fibrosis: What is cystic fibrosis? What causes it? What are the symptoms? What happens? Can it be prevented? What is carrier screening? Being diagnosed: How is it diagnosed? What is genetic testing?Getting treatment: What is the general treatment? What kinds of medicines are used? Is surgery ever needed?Ongoing concerns: What is a pseudomonas infection? What are some self-care tips for parents?Living with cystic fibrosis: When should I call a doctor? Can cystic fibrosis affect fertility? How does cystic fibrosis affect the respiratory system? How does it affect the digestive system? How are the sweat glands affected? How do I perform postural drainage and chest percussion? When is a lung transplant recommended?Health ToolsHealth Tools help you make wise health decisions or take action to improve your health.
Actionsets are designed to help people take an active role in managing a health condition.
Cystic Fibrosis: Helping Your Child Cough Up Mucus Oxygen Therapy: Using Oxygen at HomeCauseCystic 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.SymptomsSymptoms 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. Early symptoms Symptoms of cystic
fibrosis in a baby or young child may include: A blocked small intestine at birth. Salty
sweat or skin. Wanting to eat more or less than normal, having little energy,
or losing weight. Unusual bowel movements. The child may have
diarrhea that doesn’t go away, large and greasy stools, very smelly stools, or
constipation. If the intestines become blocked, the child’s belly may stick out. The child may not be able to have a bowel movement. Breathing
problems or getting tired easily while playing. A cough that doesn’t go away or
wheezing.Later symptoms Over time, symptoms may
get worse and cause problems such as: Coughing up mucus that sometimes has blood in
it. Difficulty exercising or not being able to
exercise. Rectal prolapse, which means that part of the
rectum protrudes from the anus.Other symptoms More symptoms may develop during late childhood or
early adulthood. They include: 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 causes permanent lung
damage. Bronchiectasis, which is caused by long-lasting airway
inflammation, is common. Pancreas and digestive system. Mucus can
interfere with how the
pancreas works. This can make it hard for the child
to absorb nutrients from food. Sweat glands. You may notice that your child has unusually salty skin. Cystic
fibrosis can cause a person to become easily
dehydrated or to have very low salt levels. Reproductive organs. Almost all men who have
cystic fibrosis are unable to father a child. Women who have cystic fibrosis may have more difficulty getting pregnant than other
women. Skeletal system. People who have cystic fibrosis may
have weaker bones than other people. This is because their bones contain lower levels of 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.Life expectancy 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.What Increases Your RiskCystic 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: If a person inherits the changed gene from
only one parent, he or she will not get cystic fibrosis but will be a
carrier of the disease. Carriers may pass the gene defect on to their children. If you are planning a
pregnancy and you are white, talk to your doctor about having a
genetic test to find out your chances of having a
child with cystic fibrosis. The disease is much more common in non-Hispanic white people
than in people of other races and ethnic backgrounds. When To Call a DoctorIt is important to diagnose and
treat
cystic fibrosis early. Call your doctor if your
child: Often has lung infections (pneumonia), colds, a cough, shortness of
breath, or
wheezing. Coughs up mucus that contains
blood. Doesn’t gain or stay at the same weight. Has smelly,
large, greasy stools or diarrhea. 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, for no clear reason. Is having
symptoms that you and your doctor have discussed as being more serious
problems.Watchful waiting 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: Pediatrician Family medicine doctor Pulmonologist Internist GastroenterologistOther health professionals may also be involved in your
child’s care: Respiratory therapist Physical therapist Registered dietitian Exercise physiologist Social worker Psychologist PharmacistCystic 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 TestsTests 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. 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 early symptoms. These may include diarrhea that does not go away; large, greasy or very
smelly stools; constipation; not wanting to eat; or losing weight. To learn more, see Symptoms. A brother or sister who has cystic
fibrosis. A positive
newborn screening test. Also, there must be at least one of the following: A genetic test showing that a person inherited one or two defective cystic fibrosis transmembrane regulator (CFTR) genes. This testing can be done using blood or a sample from
the mother’s womb before birth (chorionic villus sampling or
amniocentesis). 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. If a genetic test detects two defective CFTR genes, then just one sweat test result may be all that is needed to confirm a diagnosis. 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 find out how
healthy the lungs are by checking how well air moves into and out of the
lungs. A
throat culture or
sputum culture to 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 find any serious disease in the lungs,
pancreas, or other organs. Blood tests, such as the oral glucose tolerance test and liver function. These tests are 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. This test shows how well the lungs are
working.Early detection Both newborns and adults can be tested for the
changed (mutated) gene that causes cystic fibrosis. These tests include: Newborn screening. Levels of
a type of digestive enzyme are measured from a blood
sample. High levels of this enzyme suggest cystic fibrosis. Some newborns may also have
a
genetic test. Genetic test for adults. These tests identify the most common defects in the
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 find out if
either or both of them carry a defective CFTR gene.
If both parents
carry the changed gene, there is a 25% (1-in-4) chance that their child will
have no genetic problem. There is a 25% chance that their child will have cystic
fibrosis. And there is a 50% (1-in-2) chance that their child will be a
carrier. If only one
parent is a carrier of the changed 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. Genetic counseling can help you understand your
test results. Genetic testing may involve certain ethical, legal, and religious issues.Treatment OverviewAfter 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 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. Cystic Fibrosis: Helping Your Child Cough Up MucusPeople
with severe lung disease may need to use oxygen at home. Oxygen Therapy: Using Oxygen at HomeDigestive therapy 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: Digestive
enzyme replacement therapy (such as with Creon or
Pancreaze), 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;
getting fed through a tube in the stomach; and, in some cases, receiving
intravenous nutrient
supplementation. Preventing intestinal blockages with stool
softeners (to avoid constipation) and
enemas.Treating complications 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: 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 semipermanent intravenous (IV) tube to give your child antibiotics frequently without having to place a line
in the vein each time.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: Don’t smoke. And avoid
secondhand smoke. Use airway clearance techniques, such as postural drainage and chest percussion. Eat nutritious, high-calorie foods. Exercise. Drink plenty of
fluids. Add salt to foods, especially
during hot weather. Get all recommended vaccines and practice good hygiene. Also keep clean any breathing equipment you use for your treatment.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. Getting support 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. Talk to your doctor about clinical trials for these and other new treatments being studied.PreventionCystic 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. MedicationsMedicines for
cystic fibrosis help keep the lungs as healthy as
possible, reduce and control
mucus in the lungs, and replace digestive
enzymes. Medicine choices Medicines to treat infections Antibiotics (such as
ciprofloxacin and tobramycin) Medicines to open airways in the lungs or keep them open Bronchodilators
(such as albuterol or salmeterol), which are used to make breathing easier. They may also make it
easier to cough up mucus. Anticholinergics (such as Atrovent)Medicines to control the amount and thickness of mucus DNase (such as
Pulmozyme). It is used to thin mucus
in the lungs. Mucolytics (such as acetylcysteine), to thin mucus in the lungs and the intestines. These aren’t used very
much, though, because they can irritate the lungs.
Saltwater solution (hypertonic saline). This is sometimes used to help clear mucus from the
lungs. It is low-cost, and it may help reduce
inflammation in the airways.footnote 1, footnote 2Medicines to reduce inflammation Nonsteroidal anti-inflammatory drugs (NSAIDs) (such as ibuprofen) Membrane stabilizers
(such as cromolyn) Corticosteroids (such as fluticasone or prednisone)Medicines to replace the effect of digestive enzymes Enzyme replacement therapy (such as Creon or Pancreaze)Medicines to correct mutated genes Ivacaftor (Kalydeco). A small number of people with cystic fibrosis have a certain changed (mutated) gene called the G551D mutation. If people have this changed gene and are age 6 or older, the medicine ivacaftor (Kalydeco) can target the genetic cause of the lung problems and may help improve lung function. Combination medicine (lumacaftor/ivacaftor). The most common cause of cystic fibrosis is the changed gene called the F508del mutation. People who are 12 years or older and have two copies of this mutated gene, one from each parent, may be treated with this medicine. It treats the cause of cystic fibrosis. 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. 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.SurgerySurgery may be needed to treat complications
of
cystic fibrosis. Procedures may include: Lung transplant, for
people who have severe lung disease. Chest tube drainage and possible
thoracoscopy, to treat a collapsed lung (pneumothorax). Repair of an
intestine that has collapsed inside itself or removal
of a
bowel obstruction. Removal of
nasal polyps or
endoscopic sinus surgery. 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 HelpOrganizations
National Heart, Lung, and Blood Institute (U.S.) www.nhlbi.nih.gov
Cystic Fibrosis Foundation (U.S.) www.cff.org Related InformationCaregiver Tips Cystic Fibrosis Carrier Screening Genetic Test Genetics Medical Specialists Support Groups and Social SupportReferencesCitations 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).Other Works Consulted American Academy of Pediatrics (2014). Nutrition in cystic fibrosis. In Pediatric Nutrition, 7th ed., pp. 1113–1145 . Elk Grove Village, IL: American Academy of Pediatrics. American Diabetes Association (2018). Standards of medical care in diabetes—2018. Diabetes Care, 41(Suppl 1): S1–S159. http://care.diabetesjournals.org/content/41/Supplement_1. Accessed December 8, 2017. Balfour-Lynn IM, Welch K (2012). Inhaled corticosteroids for cystic fibrosis. Cochrane Database of Systematic Reviews (11). Boucher RC, et al. (2010). Cystic fibrosis. In R Mason et al., eds., Murray and Nadel’s Textbook of Respiratory Medicine, 5th ed., vol. 1, pp. 985–1022. Philadelphia: Saunders. Ernst MM, et al. (2011). Developmental and psychosocial issues in cystic fibrosis. Pediatric Clinics of North America, 58(4): 865–885. Flume PA, et al. (2009). Cystic fibrosis pulmonary guidelines: Airway clearance therapies. Respiratory Care, 54(4): 522–537. Jones AP, Wallis C (2010). Dornase alfa for cystic fibrosis. Cochrane Database of Systematic Reviews (3). Nash EF, et al. (2009). Nebulized and oral thiol derivatives for pulmonary disease in cystic fibrosis. Cochrane Database of Systematic Reviews (1). Organ Procurement and Transplantation Network (2013). Organ distribution: Allocation of thoracic organs, Policy 3.7. Available online: http://optn.transplant.hrsa.gov/policiesAndBylaws/policies.asp. Ratjen F, McColley S (2012). Update in cystic fibrosis 2011. American Journal of Respiratory and Critical Care Medicine, 185(9): 933–936.CreditsByHealthwise StaffPrimary Medical Reviewer John Pope, MD – Pediatrics Kathleen Romito, MD – Family Medicine Specialist Medical Reviewer R. Steven Tharratt, MD, MPVM, FACP, FCCP – Pulmonology, Critical Care Medicine, Medical Toxicology Current as ofFebruary 26, 2018 Top of PageNext Section:
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John Pope, MD – Pediatrics & Kathleen Romito, MD – Family Medicine & R. Steven Tharratt, MD, MPVM, FACP, FCCP – Pulmonology, Critical Care Medicine, Medical ToxicologyElkins 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).