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,
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.
sweat or skin.
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
Clubbing (rounding and flattening) of the
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.
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
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
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.
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:
A blocked small intestine at birth.
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
If the intestines become blocked, the child's belly may stick out. The child may not be able to have a bowel movement.
problems or getting tired easily while playing.
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.
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
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
osteoporosis. Cystic fibrosis can also cause swollen
or painful joints (arthropathy or
arthritis). These problems are more common in adults
than in children.
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.
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 Doctor
It is important to diagnose and
cystic fibrosis early. Call your doctor if your
Often has lung infections (pneumonia), colds, a cough, shortness of
Coughs up mucus that contains
Doesn't gain or stay at the same weight.
large, greasy stools or diarrhea.
Tires easily during activity.
Has rounded, flat
Call your doctor if your child who has been diagnosed with
cystic fibrosis gets worse in any way. Typically, this is when your
Has increased coughing or has a cough that is
Has new wheezing or has wheezing that is getting
Has more trouble breathing than usual.
weight or is not gaining weight, for no clear reason.
symptoms that you and your doctor have discussed as being more serious
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
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
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.
medical history and a
physical exam are often the first steps in diagnosing
cystic fibrosis, followed by screening or lab tests.
diagnosis of cystic fibrosis requires one of the
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
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
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.
chest X-ray to take a picture of the chest, including
the heart and lungs.
CT scan to find any serious disease in the lungs,
pancreas, or other organs.
Blood tests, such as glucose (blood
sugar) level and liver function. These tests are to see if there are any
complications of cystic fibrosis.
stool analysis to see how well your child is absorbing
and digesting fat and other nutrients.
arterial blood gas analysis to measure the levels of
oxygen and carbon dioxide in the blood. This test shows how well the lungs are
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
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
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.
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
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
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
This treatment works to replace certain
digestive enzymes, to make sure the body absorbs all the
minerals it needs, and to prevent or treat intestinal
blockages. Digestive therapy involves:
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
Preventing intestinal blockages with stool
softeners (to avoid constipation) and
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
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.
Many people with cystic fibrosis and their families need
emotional support to help them live with this genetic disease.
counseling, and education about the disease can be
very helpful not only for people who have cystic fibrosis but also for their
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.
A small number of people with cystic fibrosis have a certain changed (mutated) gene called the G551D mutation. If you have this changed gene and you are age 6 or older, 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
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.
How this information was developed to help you make better health decisions.