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CYSTIC FIBROSIS |
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Cystic Fibrosis (CF) is the most common lethal inherited recessive disease of Caucasians. It affects approximately 1 in 2500 newborns and 50,000 individuals in total worldwide. At present there, is no cure for cystic fibrosis but life expectancy has increased with standard treatments from less than 10 years in the 1960s to an average of 30 to 40 years now. The disease affects the lungs, gut, pancreas, liver and reproductive tract, but it is the consequences of the disease in the lungs that are most important. Repeated
The disease is caused by mutations (mistakes) in the gene for the cystic fibrosis transmembrane conductance regulator (CFTR), a protein found in sweat and pancreatic ducts, gut, seminiferous tubules, lungs and many other tissues. Because of these mutations abnormal CFTR protein is produced which, in the lungs, results in thick dehydrated secretions. One important effect of this is that bacteria are not effectively cleared from the lungs of CF patients, which results in the damaging cycles of inflammation mentioned above. Patients are characteristically colonised by a number of specific pathogens including the bacterium Pseudomonas aeruginosa that is found in most patients.
Cystic fibrosis is most commonly diagnosed by a sweat test, which is a relatively simple test whereby the skin is stimulated to produce sweat. This sweat is then analysed. Children who have cystic fibrosis have excessively salty sweat. Following a positive sweat test, blood is usually taken for genetic analysis. This will usually involve looking for the common mutations, which will diagnose up to 85% of patients. If the patient has a less common mutation, it may not be possible to easily identify it. Cystic fibrosis can be noticed at any age, but most children will be picked up in the first year of life. |
Children who fail to open their bowels in the first 24 hours of life may have CF. This is called meconium ileus and is characterised by an extremely thick and sticky stool (meconium). Up to 15% of infants with CF present with meconium ileus. Only a minority of children with CF are detected when they are newborn. Babies with CF do not tend to grow as well as other children. This is often termed 'failure to thrive', and is recognised when a baby or child does not put on as much weight as expected. This is because the pancreas is not working properly. In the lungs CF is characterised by production of thick mucus (or sputum) and repeated chest infections. What Treatments Are Currently Used For CF? Physiotherapy: Physiotherapy is an essential part of CF treatment as it helps
Antibiotics: Children and adults with cystic fibrosis need to take antibiotics frequently to reduce the number of chest infections that they suffer. Pancreatic enzymes: Because the pancreas does not work properly supplementary pancreatic enzymes must be taken every time food is eaten. |
Vitamin supplements are also given to combat any dietary deficiency that may arise. Good nutrition: Good nutritional support is an essential part of ongoing CF care, as it has been shown to have a positive effect on lung function and survival. Even with adequate pancreatic enzymes and vitamin supplements, children with CF often find it difficult to maintain adequate growth. A high-calorie, high-fat diet is recommended for people with CF. Steroids: Steroids may be used in selective cases to reduce inflammation in the lung. Heart and lung transplant: A heart and lung transplant may be performed when the lungs of a patient become too damaged for other treatments to be effective. What Treatments Are Being Developed For CF In The Future? In recent years progress has been steady but there is clearly need for more effective treatments. As more is being learnt about the underlying causes of CF it enables the design of better potential treatments. New drugs to combat lung inflammation and to make the CFTR protein work more effectively are amongst strategies being investigated. Gene therapy is a promising new treatment for CF currently under development. This involves the addition of a correct, functioning copy of the gene that is faulty in CF sufferers. General Information For more general information about CF visit the CF Trust's very comprehensive website or go to the Links page for other CF websites. Clinical Questions Unfortunately we are unable to answer questions about a patient' s clinical status or treatment. If you do have a question of this nature please contact the CF Trust's Ask The Expert service at asktheexpert@cftrust.org.uk. This is an advice service for people with CF and their families. You can ask any questions you may have about treatment, medication, nutrition or any other aspect of living with CF. On-line Dictionaries - for quick & easy reference to definitions of scientific and medical terms. | ||||||||||
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cycles of infection lead to continuous inflammation, damage to the lungs and eventually respiratory failure and death. It is hoped that research into new forms of treatment will lead to further improvements both in the quality and length of life for people with CF.
to clear the thick CF secretions. This helps to reduce chest infections and minimises damage to the lung.
DNAase may be given to some patients to thin the secretions prior to physiotherapy.