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. 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 one of the most common genetic disorders in white children in the United States. 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. 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. 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?
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.
Frequently Asked Questions
Learning about cystic fibrosis: | |
Being diagnosed: | |
Getting treatment: | |
Ongoing concerns: | |
Living with cystic fibrosis: | |
End-of-life issues: | |
Cause
Cystic fibrosis
occurs when a child inherits a changed (mutated) cystic fibrosis transmembrane
gene from both parents. The gene codes for a protein
called the cystic fibrosis transmembrane regulator (CFTR). 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 organs and lungs clean and
healthy.
If a child inherits the changed 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 changed
gene on to his or her children.
Many people do not know they have
the changed gene. If you are the parent of a child who has cystic fibrosis, it
is important to remember that nothing you did caused the disease.
Symptoms
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.
- Wanting to eat more or less, having little energy,
or losing weight.
- 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. Almost all men who have
cystic fibrosis are unable to father a child (infertile). 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 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 develop cystic fibrosis but will be a
carrier of the disease. Carriers may pass the cystic
fibrosis 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 white people
than in people of other races.
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.
- 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 the doctor right away.
Who to see
The following doctors can diagnose and treat cystic
fibrosis:
Other health professionals may also be involved in your
child's care:
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.
You can locate 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 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 changed (mutated)
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 changed 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 test, 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.
Also, 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 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 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
changed (mutated) 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 changed 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 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 to 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.
You can locate one by contacting the Cystic Fibrosis Foundation at www.cff.org.
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. 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 in addition
to pneumococcal shots. For more information, 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. They 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 acetylcysteine),
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.1, 2
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:
- 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
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) device, high-frequency chest
compression vest, or Flutter valve. These methods use mechanical equipment to
help clear mucus from the lungs.
Digestive therapy. 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
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.
Antibiotics. These medicines, which kill
bacteria that cause infections, are often used to treat cystic fibrosis. Some
antibiotics may be prescribed to help prevent
infections. Others may be prescribed
to help fight infections.
Ongoing treatment
Most ongoing treatment for
cystic fibrosis focuses on controlling and reducing problems or
complications in the
respiratory and digestive systems.
Your child is likely to continue with respiratory therapy, digestive therapy, and antibiotics.
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.
Doctors may do certain tests to help find out what kinds
of problems your child is having. These tests may include:
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.
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 need 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
medicines may be needed:
- Antibiotics, to treat
infection
- Anti-inflammatories to reduce
inflammation
- Bronchodilators and
anticholinergics, to open airways in the
lungs
- Medicine 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:
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.
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 issues
It is important to talk about the kind of medical procedures you
want or do not want for yourself or for your child.
For 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.
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.
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:
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.
Home Treatment
Handling the challenges of caring for a child who has cystic fibrosis can be difficult. It is
normal to feel 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. Take good care of yourself,
physically and emotionally, so that you can 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.
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. Even
though it can be challenging to follow a home treatment plan every day, there
are many benefits of home treatment. 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
airway clearance techniques on a child who has cystic fibrosis. Teens 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:
- 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
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:
Medicines to treat infections
Medicines to open breathing tubes in the lungs or keep them open
Medicines to control the amount and thickness of mucus
Medicines to reduce inflammation
Medicines to replace the effect of digestive enzymes
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.
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:
If your child is not able to get all the nutrients he or
she needs from food, a
feeding tube may be needed.
Surgery choices
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 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 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
| Cystic Fibrosis Foundation |
| 6931 Arlington Road |
| Bethesda, MD 20814 |
| Phone: | 1-800-FIGHT CF (1-800-344-4823)
(301) 951-4422 |
| Fax: | (301) 951-6378 |
| Email: | info@cff.org |
| Web Address: | www.cff.org |
| |
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
pharmacy. |
|
| Genetics Home Reference, U.S. National Library of
Medicine |
| 8600 Rockville Pike |
| Bethesda, MD 20894 |
| Phone: | 1-888-FIND-NLM (1-888-346-3656) |
| Fax: | (301) 402-1384 |
| TDD: | 1-800-735-2258 |
| Web Address: | www.ghr.nlm.nih.gov |
| |
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. |
|
| KidsHealth for Parents, Children, and
Teens |
| 10140 Centurion Parkway North |
| Jacksonville, FL 32256 |
| Phone: | (904) 697-4100 |
| Fax: | (904) 697-4220 |
| Web Address: | www.kidshealth.org |
| |
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. |
|
| March of Dimes |
| 1275 Mamaroneck Avenue |
| White Plains, NY 10605 |
| Phone: | (914) 997-4488 |
| Web Address: | www.marchofdimes.com |
| |
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. |
|
| National Heart, Lung, and Blood Institute
(NHLBI) |
| P.O. Box 30105 |
| Bethesda, MD 20824-0105 |
| Phone: | (301) 592-8573 |
| Fax: | (240) 629-3246 |
| TDD: | (240) 629-3255 |
| Email: | nhlbiinfo@nhlbi.nih.gov |
| Web Address: | www.nhlbi.nih.gov |
| |
The U.S. National Heart, Lung, and Blood Institute
(NHLBI) information center offers information and publications about preventing
and treating: - Diseases affecting the heart and circulation, such as heart
attacks, high cholesterol, high blood pressure, peripheral artery disease, and
heart problems present at birth (congenital heart diseases).
- Diseases that affect the lungs, such as asthma, chronic
obstructive pulmonary disease (COPD), emphysema, sleep apnea, and
pneumonia.
- Diseases that affect the blood, such as anemia,
hemochromatosis, hemophilia, thalassemia, and von Willebrand disease.
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References
Citations
- 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
- ACOG 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).
Credits
| By | Healthwise Staff |
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| Primary Medical Reviewer | John Pope, MD - Pediatrics |
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| Specialist Medical Reviewer | Susanna McColley, MD - Pediatric Pulmonology |
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| Last Revised | March 12, 2012 |
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