Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky. In the lungs , the mucus clogs the airways and traps germs, like bacteria, leading to infections , inflammation , respiratory failure, and other complications.
For this reason, avoiding germs is a top concern for people with CF. In the pancreas , the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients , resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease.
In men, CF can affect their ability to have children. Today, because of improved medical treatments and care, more than half of people with CF are age 18 or older. Many people with CF can expect to live healthy, fulfilling lives into their 30s, 40s, and beyond. Read the Foundation's Patient Registry Reports. Cystic fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene -- one copy from each parent. Both parents must have at least one copy of the defective gene.
People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are:. The defective CF gene contains a slight abnormality called a mutation. There are more than 1, known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier.
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Cystic Fibrosis Also called: CF. See, Play and Learn No links available. Research Clinical Trials Journal Articles. Resources Find an Expert. For You Teenagers Patient Handouts. Start Here. This test can confirm a positive cystic fibrosis screening test and sweat test.
If genetic testing is done as part of newborn or other screening, it may not be repeated during the newborn stage. Genetic testing is described in more detail in Screening and Prevention. Prenatal diagnostic tests to diagnose cystic fibrosis in an unborn baby, using mutated CFTR genes. This is done with procedures that take either a sample of amniotic fluid, the liquid in the sac surrounding your unborn baby, or tissue from the placenta.
Cells from these samples are checked for gene mutations. Infants with positive prenatal testing for cystic fibrosis will be further tested after birth to confirm the diagnosis of cystic fibrosis. Sweat test for high sweat chloride to see if you have high levels of chloride in your sweat. The sweat test is the standard test for diagnosing cystic fibrosis.
It may be used if you have symptoms that may indicate cystic fibrosis, or to confirm a positive diagnosis from a screening of your newborn baby.
A normal sweat chloride test alone does not mean you do not have cystic fibrosis. Lower levels of chloride may indicate the need for further testing to diagnose or rule out cystic fibrosis.
Sweat chloride test results for diagnosing cystic fibrosis. How is a sweat chloride test performed? Return to Risk Factors to review family history and racial or ethnic factors that increase your risk of developing cystic fibrosis.
Return to Signs, Symptoms, and Complications to review common signs and symptoms of cystic fibrosis. Return to Screening and Prevention to review how to screen for cystic fibrosis. Treatment - Cystic Fibrosis. Your healthcare team. The United States has more than CF Care Centers, with medical teams that include: Doctors specializing in the lungs, diabetes, and the digestive system Genetic counselors Nurses Nutritionists and dietitians Pharmacists Physical therapists Psychologists Respiratory therapists Social workers.
Airway clearance techniques. Your doctor may prescribe some of the following medicines to treat cystic fibrosis: Antibiotics to prevent or treat lung infections and improve lung function. Your doctor may prescribe oral, inhaled, or intravenous IV antibiotics. Anti-inflammatory medicines, such as ibuprofen or corticosteroids, to reduce inflammation.
Inflammation causes many of the changes in cystic fibrosis, such as lung disease. Ibuprofen is especially beneficial for children, but side effects can include kidney and stomach problems. Corticosteroids can cause bone thinning and increased blood sugar and blood pressure. Bronchodilators to relax and open airways.
These treatments are taken by inhaling them. They improve lung function and help prevent lung problems and other complications. Examples include ivacaftor and lumacaftor and a triple combination medicine elexacaftor—tezacaftor—ivacaftor. It is currently approved to use in adults and children older than 12 years. Mucus thinners to make it easier to clear the mucus from your airways. Research for Your Health will discuss how we are using current research and advancing research to treat patients who have cystic fibrosis.
Participate in NHLBI Clinical Trials will discuss our open and enrolling clinical studies that are investigating treatments for cystic fibrosis. Living With will discuss what your doctor may recommend including medicines to manage complications like infections, and other treatments, lifelong lifestyle changes, and medical care to manage your cystic fibrosis and to prevent it from getting worse or causing complications.
Living With - Cystic Fibrosis. Receive routine follow-up care. Regular checkups may include: Education about airway clearance, infection control, energy, and nutrition goals Height and weight measurement, and calculation of BMI Physical activity guidance Physical exam, including examination of the heart, lungs, and abdomen to check the liver and for abdominal pain Physical therapy evaluation and needs Psychological assessment and support Return to Treatment to review possible treatment options for your cystic fibrosis.
Monitor your condition. In addition to more frequent regular checkups, you may need to see your doctor for additional tests and evaluations, which may include the following: Abdominal ultrasound or CT scan to look for the cause of abdominal pain, check the pancreas and liver, and look for distal intestinal obstruction. Blood tests to check for diabetes, infection, liver disease, side effects of medicines such as damage to kidneys, nutritional status including complete blood count, and vitamin levels.
Bone mineral density tests to check for osteopenia or osteoporosis in those who are at risk. You may be at risk if you are take corticosteroids long term, have severe lung disease, or do not get adequate nutrition.
Chest CT scan to look for changes in lung function or lung infection Chest X-ray to look for lung abnormalities and infections. Early changes may be seen on X-ray before you notice symptoms. In younger children this may be done every other year to decrease radiation exposure. Colonoscopy to monitor for colorectal cancer because of increased risk. Glucose monitoring and testing to check for cystic fibrosis-related diabetes.
Lung biopsy to test for specific bacteria. Pancreas function testing, which may include looking at an enzyme called pancreatic elastase-1 in your stool. Pulmonary function tests , which includes checking oxygen levels in your blood and spirometry, which is the most important and widely used tool to assess lung function in cystic fibrosis. Regular spirometry is used to monitor lung function in people age 6 and older and may be done in children as young as age 3. Respiratory sample smear and culture, which involves taking airway secretion or mucus samples every three months to look for microorganisms in the respiratory tract, and if necessary, treat them.
Review of caloric intake, and pancreatic enzyme replacement. Healthy lifestyle changes. These include the following: Avoiding tobacco smoke, including secondhand smoke. Being physically active to improve lung function. Physical activity helps with airway clearance and improves bone mineral density, muscle strength, flexibility, and posture.
Before starting any exercise program, ask your doctor about what level of physical activity is right for you. Healthy eating to improve overall health. Healthy eating is also important for normal growth in children who have cystic fibrosis. You may need to increase your food or calorie intake by eating more foods or by eating high-energy foods.
A high-sodium eating plan or supplementation with sodium may be recommended at times. Prevent or reduce complications over your lifetime. To help you prevent complications and reduce the risk of infections, your doctor may recommend the following: Continue your treatments, including medicines, supplements, and daily airway clearance techniques.
Treating infections and pulmonary exacerbations is important to preserve lung function and slow the progression of disease. Lung disease is the major source of CF-related complications. Practice good hand hygiene whenever it is appropriate, such as before and after taking medicines and breathing treatments , before you eat, after you use the bathroom, and after blowing your nose. Wash your hands often with soap or use an alcohol-based hand sanitizer.
Receive recommended vaccines, which includes routine immunizations, vaccine for pneumococcus, and an influenza shot every year at the start of flu season. Anyone who lives with you or whom you see often should also get regular vaccines. Treatments for complications. Your doctor may recommend medicines to treat complications of cystic fibrosis, including: Antibiotics to prevent or treat lung infections and pulmonary exacerbations.
Insulin to treat diabetes caused by destruction of the pancreas, if needed. Medicine to help unclog ducts in the liver and improve bile flow.
This includes ursodeoxycholic acid. This may improve abnormal liver function blood tests. Nutritional supplements when healthy eating is not enough. Your doctor may recommend supplements such as calcium, multivitamins, oral pancreatic enzymes, sodium, or vitamin A, D, E, and K.
Oxygen therapy to treat low levels of oxygen in the blood. This may improve the ability to be physically active and attend school or work. Surgeries such as lung transplant may help people with advanced lung disease and respiratory failure. Liver transplant may be an option for advanced liver disease such as cirrhosis. A person who undergoes a lung transplant will also need pulmonary rehabilitation after the surgery.
Learn the warning signs of serious complications and have a plan. Call your doctor if you believe you have any of the following: Pulmonary exacerbation, which involves a worsening of lung symptoms, such as more coughing or wheezing, chest congestion, and a change in mucus color. You may also have weight loss, a poor appetite, or fever.
Treatment can manage the symptoms of the disease, however, and improve quality of life. Symptoms can vary and treatment plans will be individualized. It is crucial for people with CF to get rid of mucus from their lungs to allow clear breathing and minimize lung infections. Airway clearance techniques ACT can help people with CF to loosen and get rid of mucus from their lungs.
An example of ACT would be postural drainage and percussion. Inhaled medication is effective at reaching the airways and commonly used. The medication can be given by aerosol or as a metered dose inhaler. These medications can thin mucus, kill bacteria, and mobilize mucus to improve airway clearance. Antibiotics are an important part of regular care. These can be taken orally, intravenously, or through inhalation.
Other drugs, such as ibuprofen and azithromycin, have been found to preserve and improve lung function, and are now considered to be a part of standard therapy for people with CF. People with CF can also help reduce their risk of lung infection by taking the following steps :.
Implanted devices can allow long-term access to the bloodstream for the frequent and regular administration of drugs. They can make management of a chronic condition like CF more efficient and less intrusive. They allow for proper flow of salt and fluids on the surface of the lungs, thinning the thick mucus that people with CF usually have built up in their lungs. These are Kalydeco and Orkambi. They are prescribed for children with 10 different mutations of the CF-causing gene.
As CF can affect digestive function and nutrient absorption, people with CF should discuss their diet with their doctor.
A nutritionist or dietitian may help with the management of digestive symptoms. A different kind of diet or additional supplements, such as pancreatic enzyme supplements, salt, or vitamins , may be needed to balance the absorption of nutrients. CF can lead to impaired growth.
A high-calorie, high-fat diet is essential for normal growth and development in children with CF.
0コメント