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What is cystic fibrosis?Cystic fibrosis (CF) is a genetic disease that mostly affects the lungs and digestive system. It results from a fault in a particular gene. Show
People with CF develop a lot of very thick and sticky mucus in their lungs, airways and the digestive system. They have problems digesting food and experience repeated lung infections, which can permanently damage their lungs. Most people with cystic fibrosis have:
They may also have lung damage, malnutrition, poor growth and diabetes. Almost all men and most women with cystic fibrosis are infertile. One in every 2,500 babies born in Australia has CF. The lives of people with CF are usually shortened by the disorder, and the average life expectancy of an Australian with CF is 38. However, people with CF can lead happy and productive lives with the right treatment. What are the symptoms of cystic fibrosis?The symptoms of CF are:
What causes cystic fibrosis?CF is caused by a mutation (change) in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene helps control salt and water in the cells and affects the production of mucus, sweat and digestive fluids. Both parents must carry the faulty cystic fibrosis gene for the disease to be passed to their child. If both parents carry the gene, there is a 1 in 4 chance of it being passed on in each pregnancy. You can be a CF carrier and not have any symptoms. How is cystic fibrosis diagnosed?CF is usually detected in newborn babies through a neonatal screening test, known as the heel prick test. This free test involves pricking the heel of the baby to gain a tiny blood sample and detects up to 95 in every 100 babies with CF. If a baby has a positive heel prick test, they should then have a sweat test at about 6 weeks old to see if they either have the disorder or are a healthy carrier of the faulty gene. Adults who have cystic fibrosis in their family can talk to a gene expert and have blood tests to see if they carry the gene for CF. How is cystic fibrosis managed?While CF cannot be cured, there are treatments to manage it. People with CF must consume up to 60 pills a day to help them digest food, and may do up to 4 hours of physiotherapy every day. Management usually involves:
Some people with CF will need a lung transplant to prolong their lives. Other may need a liver or pancreas transplant. Complications of cystic fibrosisCF can affect the skin, pancreas, liver, intestines, sinuses, and sex organs. Eventually, people with CF develop lung failure. Resources and supportCystic Fibrosis Australia Cystic fibrosis is an inherited condition in which the lungs and digestive system can become clogged with thick, sticky mucus. It can cause problems with breathing and digestion from a young age. Over many years, the lungs become increasingly damaged and may eventually stop working properly. Most cases of cystic fibrosis in the UK are now identified through screening tests carried out soon after birth. It's estimated that 1 in every 2,500 babies born in the UK has cystic fibrosis. A number of treatments are available to help reduce the problems caused by the condition, but unfortunately average life expectancy is reduced for people who have it. Symptoms of cystic fibrosisSymptoms of cystic fibrosis tend to start in early childhood, although they can sometimes develop very soon after birth, or may not be obvious until adulthood. Some of the main symptoms of cystic fibrosis can include:
People with the condition can also develop a number of related conditions, including diabetes, thin, weakened bones (osteoporosis) and liver problems. Read more about the symptoms of cystic fibrosis Causes of cystic fibrosisCystic fibrosis is caused by a faulty gene that a child inherits from both of their parents. The faulty gene means that some cells struggle to move salt and water across the cell wall. This, along with recurrent infections, can result in a build-up of thick, sticky mucus in the body's tubes and passageways. To be born with cystic fibrosis, a child has to inherit two copies of this faulty gene – one from each of their parents. Their parents will not usually have the condition themselves, because they will only carry one faulty gene and one that works normally. If both parents carry the faulty gene, there's a 25% chance that each child they have will be born with cystic fibrosis. Read more about the causes of cystic fibrosis Screening and testing for cystic fibrosisMost cases of cystic fibrosis are now detected soon after birth through the newborn blood spot test. This involves collecting a drop of blood from the baby's heel and testing it for abnormalities that could indicate cystic fibrosis. More tests will be needed to confirm the diagnosis, such as:
These tests can also be carried out in older children and adults with symptoms of cystic fibrosis who haven't been screened previously. If you have a family history of cystic fibrosis, you can be tested to determine if you're at risk of having a child with the condition by checking if you're a "carrier" of the faulty gene that causes it. Read more about how cystic fibrosis is diagnosed Treatments for cystic fibrosisThere's currently no cure for cystic fibrosis, but a number of treatments are available to help control the symptoms, prevent complications, and make the condition easier to live with. Possible treatments include:
A lung transplant may eventually be needed if the lungs become greatly damaged. Read more about treating cystic fibrosis Outlook for cystic fibrosisCystic fibrosis is a progressive condition, which means it tends to get worse over time. Eventually the condition can be fatal if it leads to a serious infection or the lungs stop working properly. The outlook for cystic fibrosis has improved considerably in recent years because of advancements in treatment, although most people with cystic fibrosis will have a shorter-than-average life expectancy. Currently, about half of the people with cystic fibrosis will live past the age of 40. Children born with the condition nowadays are likely to live longer than this. Information about youIf you or your child has cystic fibrosis, your clinical team will pass information about you/your child on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time. Find out more about the register How do you diagnose cystic fibrosis?Genetic testing may be done to see if you carry the mutated gene that triggers cystic fibrosis. A sweat test may also be conducted. CF causes higher than normal levels of salt in your sweat. Doctors will examine the levels of salt in your sweat to confirm a diagnosis.
How do they test for cystic fibrosis in adults?Diagnosis is most often made using a sweat test, which measures the amount of salt in your sweat using a chemical on the skin that causes you to sweat, and then collecting the sweat for analysis. A person with cystic fibrosis generally has more salt in his or her sweat. A genetics test can also be used to diagnose.
How is cystic fibrosis diagnosed in children?Most people are diagnosed with CF at birth with newborn screening, or before 2 years of age. A doctor who sees the symptoms of CF will order a sweat test or a genetic test to confirm the diagnosis. A sweat test is the most common test used to diagnose CF. It is a painless test.
What are 3 symptoms of cystic fibrosis?People with CF can have a variety of symptoms, including:. Very salty-tasting skin.. Persistent coughing, at times with phlegm.. Frequent lung infections including pneumonia or bronchitis.. Wheezing or shortness of breath.. Poor growth or weight gain in spite of a good appetite.. |
Which diagnostic tests aid in the diagnosis of cystic fibrosis select all that apply?
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