About 30, people in the United States have the disease.
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CF causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes from reaching the intestine where they are required in order to digest food. The gene was discovered in Since then, more than mutations of this single gene have been identified. In normal cells, the CFTR protein acts as a channel that allows cells to release chloride and other ions.
But in people with CF, this protein is defective and the cells do not release the chloride. The result is an improper salt balance in the cells and thick, sticky mucus. Researchers are focusing on ways to cure CF by correcting the defective gene, or correcting the defective protein.
Gene therapy offers great promise for life-saving treatment for CF patients since it targets the cause of CF rather than just treating symptoms.
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Gene therapy for CF had its start in , when scientists successfully corrected faulty CFTR genes by adding normal copies of the gene to laboratory cell cultures. In , the first experimental gene therapy treatment was given to a patient with CF. Researchers modified a common cold virus to act as a delivery vehicle - or "vector"- carrying the normal genes to the CFTR cells in the airways of the lung. Subsequent studies have tested other methods of gene delivery, such as fat capsules, synthetic vectors, nose drops or drizzling cells down a flexible tube to CFTR cells lining the airways of lungs.
Researchers are now testing aerosol delivery using nebulizers. But finding the best delivery system for transporting normal CFTR genes is only one problem that scientists must solve to develop an effective treatment for CF. Scientists must also determine the life span of affected lung cells, identify the "parent cells" that produce CFTR cells, find out how long treatment should last and how often it needs to be repeated.
The first cystic fibrosis gene therapy experiments have involved lung cells because these cells are readily accessible and because lung damage is the most common, life-threatening problem in CF patients. But scientists hope that the technologies being developed for lung cells will be adapted to treat other organs affected by CF. Another research breakthrough offers a promising approach to treating cystic fibrosis.
Researchers at the University of Washington's Genome Center and at PathoGenesis Corporation have completed a genetic map for the Pseudomonas aeruginosa bacterium. This bacterium is the most common cause of chronic and fatal lung infections for people with CF. Scientists hope to use their knowledge of this bacterium's genetic sequence to develop innovative drugs for treating infections caused by P.
As the amount of information about CF grows, scientists have recognized the need to share their research findings. The center is becoming a repository for data derived from gene expression studies. The most common cause of death in people with CF is respiratory failure. CF's obstruction of the lungs increases the risk of lung infections such as bronchitis and pneumonia , as it creates optimal conditions for the growth of pathogens. Obstruction in the pancreas can lead to malnutrition and poor growth. It has also been associated with an increased risk of diabetes and osteoporosis.
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. A therapist claps the patient's chest and back while they sit, stand, or lie in a position that should help to free up mucus. 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.
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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.
It can help adults to maintain optimal health. Good nutrition is vital, as individuals with CF need to maintain a robust defense against an increased risk of lung infection. CF is an inherited condition.
Cystic Fibrosis | CF | Cystic Fibrosis Symptoms | MedlinePlus
For someone to have CF, they need to inherit the defective gene from both of their parents. The defective gene contains codes for producing a protein that controls the flow of salt and water outside of the organs, including the lungs and the pancreas. In CF, the balance of salt is disturbed, leading to too little salt and water outside of the cells and the production of thicker-than-normal mucus. People with only one copy of the defective gene are called carriers. They do not have the condition or its symptoms.
To have the disease, both parents must be carriers. If two carriers have a child , there is a:. All newborns in the U. This can indicate that a baby might have a health condition and require further investigation. CF is usually diagnosed through a sweat test. Sweat is collected and the amount of chloride, a component of salt in the sweat, is measured. A high level of chloride is an indication of CF. Genetic tests can also be carried out by analyzing cheek cells or a blood sample. These tests are mainly used to find out if a person carries the CF gene, but they can also be used to confirm a CF diagnosis following an unclear sweat test result.
There are over 1, known mutations of the CF gene.
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As a result, most genetic tests for the condition only screen for the most common mutations. The median predicted age of survival for people with CF is currently in the early 40s.
Life expectancy is strongly affected by the severity of the disease, age of diagnosis, and the type of CF gene mutation. Article last updated by Adam Felman on Thu 11 January Visit our Cystic Fibrosis category page for the latest news on this subject, or sign up to our newsletter to receive the latest updates on Cystic Fibrosis. All references are available in the References tab. About cystic fibrosis. Cystic fibrosis CF. CFTR modulator therapies. How is cystic fibrosis treated? Fertility in men with CF. CF genetics: the basics. Germs and staying healthy. Know your CF mutations.
Living with cystic fibrosis n. Newborn screening for CF n. Taylor-Cousar, J. Potential of anti-inflammatory treatment for cystic fibrosis lung disease. Journal of Inflammation Research, 3, Treatments and therapies.
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