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.
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
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
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.
Learning about cystic fibrosis:
Living with cystic fibrosis:
Health Tools help you make wise health decisions or take action to improve your health.
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 organs and lungs 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. 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:
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.
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
cystic fibrosis early. Call your doctor if your
Call your doctor if your child who has been diagnosed with
cystic fibrosis gets worse in any way. Typically, this is when your
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
Other health professionals may also be involved in your
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
To prepare for your appointment, see the topic Making the Most of Your Appointment.
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.
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
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.
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.
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
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
minerals it needs, and to prevent or treat intestinal
blockages. Digestive therapy involves:
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:
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.
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.
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
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.
cystic fibrosis help keep the lungs as healthy as
possible, reduce and control
mucus in the lungs, and replace digestive
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.
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.
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.
information on transplants, see the topic
The CFF coordinates, supports, and accredits cystic
fibrosis centers and programs, supports research, and advocates for patients.
You can find information about things like treatment, care centers, clinical
trials, and staying healthy. You can also buy medicines from the online
The Genetics Home Reference provides information on hundreds of genetic conditions. The website has many tools for learning about human genetics and the way genetic changes can cause
disease. It also has links to additional resources for people who
have genetic conditions and for their families.
This website is sponsored by the Nemours Foundation. It
has a wide range of information about children's health—from allergies and
diseases to normal growth and development (birth to adolescence). This website
offers separate areas for kids, teens, and parents, each providing
age-appropriate information that the child or parent can understand. You can
sign up to get weekly emails about your area of interest.
The March of Dimes tries to improve the health of babies
by preventing birth defects, premature birth, and early death. March of Dimes
supports research, community services, education, and advocacy to save babies'
lives. The organization's website has information on premature birth, birth
defects, birth defects testing, pregnancy, and prenatal care.
The U.S. National Heart, Lung, and Blood Institute
(NHLBI) information center offers information and publications about preventing
CitationsElkins 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 ConsultedACOG Committee on Genetics (2002, reaffirmed 2006). Genetics and molecular testing. ACOG Technology Assessment in Obstetrics and Gynecology, 100(1): 193–211.American Academy of Pediatrics (2009). Nutrition in cystic fibrosis. In RE Kleinman, ed., Pediatric Nutrition Handbook, 6th ed., pp. 1001–1020. Elk Grove Village, IL: American Academy of Pediatrics.Balfour-Lynn IM, Welch K (2009). Inhaled corticosteroids for cystic fibrosis. Cochrane Database of Systematic Reviews (1).Borowitz D, et al. (2009). Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. Journal of Pediatrics, 155(6): S73–S93.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.Dovey ME (2006). Cystic fibrosis. In FD Burg et al., eds., Current Pediatric Therapy, 18th ed., pp. 457–461. Philadelphia: Saunders Elsevier.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.Farrell PM, et al. (2008). Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. Journal of Pediatrics, 153(2): S4–S14.Federico MJ, et al. (2011). Bronchiectasis section of Respiratory tract and mediastinum. In WW Hay Jr et al., eds., Current Diagnosis and Treatment: Pediatrics, 20th ed., pp. 503–504. New York: McGraw-Hill.Flume PA, et al. (2009). Cystic fibrosis pulmonary guidelines: Airway clearance therapies. Respiratory Care, 54(4): 522–537.Flume PA, et al. (2009). Cystic fibrosis pulmonary guidelines: Treatment of pulmonary exacerbations. American Journal of Respiratory and Critical Care Medicine, 180(9): 802–808.Grosse SD, et al. (2004). Newborn screening for cystic fibrosis: Evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR, 53(RR-13): 1–36.Gustafsson PM, et al. (2008). Multiple-breath inert gas washout and spirometry versus structural lung disease in cystic fibrosis. Thorax, 63(2): 129–134.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 (2010). Organ distribution: Allocation of thoracic organs, Policy 3.7, pp. 1–31. Available online: http://optn.transplant.hrsa.gov/policiesAndBylaws/policies.asp.Southern KW, et al. (2009). Newborn screening for cystic fibrosis. Cochrane Database of Systematic Reviews (1).Wark P, McDonald VM (2009). Nebulised hypertonic saline for cystic fibrosis. Cochrane Database of Systematic Reviews (2).
June 15, 2011
John Pope, MD - Pediatrics & Susanna McColley, MD - Pediatric Pulmonology
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