But in people with CF , a defective gene causes the secretions to become sticky and thick. Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.
Although cystic fibrosis is progressive and requires daily care, people with CF are usually able to attend school and work. They often have a better quality of life than people with CF had in previous decades. Improvements in screening and treatments mean that people with CF now may live into their mid- to late 30s or 40s, and some are living into their 50s.
In the U. But people born before newborn screening became available may not be diagnosed until the signs and symptoms of CF show up. Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes.
Some people may not experience symptoms until their teenage years or adulthood. People who are not diagnosed until adulthood usually have milder disease and are more likely to have atypical symptoms, such as recurring bouts of an inflamed pancreas pancreatitis , infertility and recurring pneumonia. People with cystic fibrosis have a higher than normal level of salt in their sweat. Parents often can taste the salt when they kiss their children.
Most of the other signs and symptoms of CF affect the respiratory system and digestive system. The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause signs and symptoms such as:.
The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these digestive enzymes, your intestines aren't able to completely absorb the nutrients in the food you eat. The result is often:.
If you or your child has symptoms of cystic fibrosis — or if someone in your family has CF — talk with your doctor about testing for the disease. Consult a physician who is knowledgeable about CF. Cystic fibrosis requires consistent, regular follow-up with your doctor, at least every three months. Contact you doctor if you experience new or worsening symptoms, such as more mucus than usual or a change in the mucus color, lack of energy, weight loss, or severe constipation.
Seek immediate medical care if you're coughing up blood, have chest pain or difficulty breathing, or have severe stomach pain and distention. In cystic fibrosis, a defect mutation in a gene — the cystic fibrosis transmembrane conductance regulator CFTR gene — changes a protein that regulates the movement of salt in and out of cells.
The body needs nutrients for health and growth. A common symptom of CF is failure to thrive. Median The middle point in a line of values. Above and below the median are an equal number of values.
In "1 4 5 9 12", "5" is the median. Two numbers are above the 5, and two numbers are below it. Mucus A thin, slippery fluid made by mucus membranes and glands. In CF, mucus is often thick and sticky. Nutrition supplements Pills, fluids, snacks, and drinks that give the body extra nutrition. Pancreas Long gland-like organ found behind the stomach. The duct part of the pancreas secretes enzymes into the intestine to help break down food.
In CF, mucus may clog the ducts and block digestion. The other part of the pancreas contains endocrine tissue, which makes the hormone insulin. Insulin controls how the body uses and stores sugar. The Cystic Fibrosis Center at Stanford. The Basics of CF. What Is CF? How is CF diagnosed? A suspicion of CF occurs when some of these symptoms are present: Persistent cough, wheezing, or recurrent pneumonia Good appetite, but poor weight gain Loose, bad-smelling bowel movements A salty taste to the skin Clubbing enlarging of the fingertips A simple, painless test called a sweat chloride test can then be done.
Genetics and CF What is a gene? CF and the Lungs What happens in the lungs: The lungs are like an upside down tree: the trachea is the trunk, the bronchi are the main branches, the bronchioles are smaller branches, and the alveoli are the smallest little twigs and leaves.
Flutter: A pocket device that provides positive expiratory pressure PEP therapy. It looks like a fat pipe. Inside the pipe is a plastic cone cradling a steel ball sealed with a perforated cover. Exhaling through your mouth into the flutter with a moderate force causes the ball to oscillate move back and forth in the pipe. Oscillation is transmitted throughout the airways, loosening secretions.
The force of exhalation helps to mobilize secretions. It works in two ways: the chest wall is vibrated to break up sputum, then chest wall oscillation causes outward airflow, like a miniature cough. Autogenic drainage uses the patient's own airflow to mobilize secretions, through controlled, graduated inspiratory and expiratory maneuvers.
This technique, though sometimes difficult to learn and do correctly, does not require any assistive devices. This method requires training with a respiratory therapist to perform properly.
ACB is combined with a forced expiratory technique which uses "huffing" from various lung volumes to assist in removal of secretions and thoracic expansion exercises.
Intrapulmonary Percussive Ventilation IPV is an airway clearance technique that uses compressed gas to deliver a series of pressurized gas minibursts to the respiratory tract usually by a mouthpiece. The IPV device is a pressurized aerosol machine that delivers aerosolized medications through a mouthpiece under pressure and with oscillations that vibrate the chest and loosen airway secretions. Lung Infections What Is an Infection? What happens in an infection? Invaded by these unfriendly organisms, the tissue becomes inflamed, the normal reaction of tissue to injury.
Inflammation is characterized by heat, swelling, redness, and pain. The invading microorganisms damage lung tissue. Damaged cells send out chemical messages to the body, called chemotactic substances. These chemical messages initiate the body's immune response. As in any battle, many organisms die. These dead cells can accumulate in the lungs in the form of increased mucus. What are the consequences of chronic lung inflammations and infection?
Tissue damage: microorganisms damage tissue during their invasion, but some of the white blood cells can also damage lung tissue as they attempt to destroy the invading microorganisms. Thickened mucus: dead cells can accumulate in the lungs, adding to and thickening the mucus and making it harder to remove. However, most babies with high levels of IRT do not have cystic fibrosis.
IRT may also be high if the baby is premature, had a stressful delivery, or is a carrier of cystic fibrosis.
Some states test only IRT for cystic fibrosis newborn screening. There is no way to prevent whether or not you have cystic fibrosis. Couples who are planning to have children and know that they are at risk of having a child with cystic fibrosis may want to meet with a genetic counselor.
A genetic counselor can answer questions about the risk and explain the choices that are available. Symptoms of cystic fibrosis depend on which organs are affected and the severity of the condition. Most patients who have cystic fibrosis have noticeable symptoms.
Some patients have few or no signs or symptoms, while others experience severe symptoms or life-threatening complications. Symptoms may also change over time. The most common complications of cystic fibrosis affect the lungs and pancreas. Cystic fibrosis most commonly affects the lungs. Some people who have cystic fibrosis may have wheezing and a cough that may produce mucus or blood.
Cystic fibrosis affects many parts and systems of the body. Complications will depend on the affected organs and the severity of disease. People who have cystic fibrosis produce thick, sticky mucus that causes problems in the lungs and digestive system. The buildup of mucus in the lungs makes it easy for bacteria to grow and often leads to serious lung infections. People who have cystic fibrosis often have problems with nutrition, too, because their pancreas does not work properly.
Your doctor may diagnose cystic fibrosis based on your signs and symptoms and results from certain tests, such as genetic and sweat tests that are done to confirm screening tests. To diagnose cystic fibrosis, your doctor may recommend some of the following tests and procedures:. The sweat test detects a higher amount of chloride—a component of salt that is made of sodium and chloride—in the sweat of people who have cystic fibrosis.
In order to make sweat for this test, a colorless, odorless chemical and a little electrical stimulation are applied to a small area of an arm or leg. The sweat is collected and sent to a hospital lab for testing. While there is not yet a cure for cystic fibrosis, advances in treatment are helping people live longer, healthier lives. To better manage your condition, you or your child will work with cystic fibrosis specialists.
In newborns with a positive screening result, treatment may begin while the diagnosis is being confirmed.
Treatment for cystic fibrosis is focused on airway clearance, medicines to improve the function of the faulty CFTR protein and prevent complications, and surgery, if needed. Your healthcare team will likely include a cystic fibrosis specialist.
This is a doctor who is familiar with the complex nature of cystic fibrosis. Your doctor may work with a medical team that specializes in cystic fibrosis, often at major medical centers.
Airway clearance techniques help loosen lung mucus so it can be cleared, reducing infections and improving breathing. The techniques include special ways of breathing and coughing, devices used by mouth and therapy vests that use vibrations to loosen mucus, and chest physical therapy.
These techniques are often used along with medicines such as bronchodilators and mucus thinners. Medicines to treat cystic fibrosis include those used to maintain and improve lung function, fight infections, clear mucus and help breathing, and work on the faulty CFTR protein. Your doctor may prescribe some of the following medicines to treat cystic fibrosis:. Surgery may be an option for people with advanced conditions. See Living With for more information. If you or your child has been diagnosed with cystic fibrosis, it is important that you continue your treatments, follow up with your doctors, and learn how to manage the condition.
Regular checkups with your doctor may be part of your follow-up and treatment. How often your regular checkups take place will depend on your age. Younger patients, and those who have just been diagnosed, will have more frequent visits.
As adults, you may see your doctor less often, perhaps every three months and then once a year for an evaluation. Return to Treatment to review possible treatment options for your cystic fibrosis. In addition to more frequent regular checkups, you may need to see your doctor for additional tests and evaluations, which may include the following:. Staying healthy is an extremely important part of cystic fibrosis care.
Your medical team will work with you to develop a plan for lifestyle changes that can become part of your everyday life. These include the following:. To help you prevent complications and reduce the risk of infections, your doctor may recommend the following:. Cystic fibrosis may have serious complications. Call your doctor if you believe you have any of the following:. Return to Signs, Symptoms, and Complications to review complications. We are committed to advancing science and translating discoveries into clinical practice to promote the prevention and treatment of heart, lung, blood, and sleep disorders, including cystic fibrosis.
Learn about current and future NHLBI efforts to improve health through research and scientific discovery. Learn about the following ways in which the NHLBI continues to translate current research and science into improved health for people who have cystic fibrosis. In support of our mission , we are committed to advancing cystic fibrosis research in part through the following ways:.
We lead or sponsor many studies on cystic fibrosis. See if you or someone you know is eligible to participate in our clinical trials. To learn more about clinical trials at the NIH Clinical Center or to talk to someone about a study that might fit your needs, call the Office of Patient Recruitment Learn more about participating in a clinical trial. View all trials from ClinicalTrials.
Visit Children and Clinical Studies to hear experts, parents, and children talk about their experiences with clinical research. After reading our Cystic Fibrosis Health Topic, you may be interested in additional information found in the following resources. Cystic Fibrosis. Also known as CF. Cystic fibrosis CF is a genetic condition that affects a protein in the body. Mucus is normally slippery and protects the linings of the airways, digestive tract, and other organs and tissues.
People who have cystic fibrosis make thick, sticky mucus that can build up and lead to blockages, damage, or infections in the affected organs.
Inflammation also causes damage to organs such as the lungs and pancreas. Some people who have cystic fibrosis have few or no signs or symptoms, while others experience severe symptoms or life-threatening complications. The most serious and common complications of cystic fibrosis are problems with the lungs, also known as pulmonary or respiratory problems, which may include serious lung infections.
People who have cystic fibrosis often also have problems maintaining good nutrition, because they have a hard time absorbing the nutrients from food. This is a problem that can delay growth. Your doctor may recommend treatments to improve lung function and prevent or manage complications. Early treatment can improve your quality of life and help you live longer. Explore this Health Topic to learn more about cystic fibrosis, our role in research and clinical trials to improve health, and where to find more information.
Causes - Cystic Fibrosis. What gene mutations cause cystic fibrosis? Learn more about what the CFTR protein does in your body. Read more. Read less. How is cystic fibrosis inherited?
Inheritance Pattern for Cystic Fibrosis. This image shows how CFTR genes are inherited. A person inherits two copies of the CFTR gene, one from each parent. If each parent has a normal CFTR gene and a mutated CFTR gene, each child has a 25 percent chance of inheriting two normal genes, a 50 percent chance of inheriting one normal gene and one gene with a mutation and being a cystic fibrosis carrier, and a 25 percent chance of inheriting two genes with mutations and having cystic fibrosis.
Look for. Treatment will discuss medicines, supplements, and lifestyle changes that your doctors may recommend if you are diagnosed with cystic fibrosis. Risk Factors - Cystic Fibrosis. A common technique involves placing the head over the edge of a bed and clapping with cupped hands along the sides of the chest. Cystic fibrosis can prevent the intestines from absorbing necessary nutrients from food. You may also need to take pancreatic enzyme capsules with every meal.
Your doctor may also recommend antacids , multivitamins , and a diet high in fiber and salt. The outlook for people with cystic fibrosis has improved dramatically in recent years, largely due to advances in treatment.
Today, many people with the disease live into their 40s and 50s, and even longer in some cases. The resulting damage to the lungs can cause severe breathing problems and other complications. However, genetic testing should be performed for couples who have cystic fibrosis or who have relatives with the disease. When you have cystic fibrosis, you can get pregnant and carry a baby to term. Read on to learn how the condition can affect your pregnancy, testing….
College is a major transition. Having a chronic condition like cystic fibrosis can make college a little more complicated, but certainly not…. If you are a carrier for cystic fibrosis, that means you could pass on the gene to your children. Learn more about being a carrier. Cystic fibrosis is an inherited disease that doesn't have a cure.
Learn about its symptoms, the latest research, and how to get involved. Health Conditions Discover Plan Connect. Cystic Fibrosis. What are the symptoms of cystic fibrosis? What causes cystic fibrosis?
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