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Cystic fibrosis

 


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Condition
Cystic Fibrosis

Class
Digestive and Respiratory

what is CF
Cystic Fibrosis (CF) is the UK's most common life-threatening inherited disease affecting 7,500 children and adults. People who have CF produce a thick sticky mucus which clogs their lungs and digestive systems making it difficult to breathe and absorb food properly. Each week five babies are born with Cystic Fibrosis in the UK.

People with CF are living longer than ever before. Until the 1930s, the life expectancy of a baby with CF was only a few months. Today the average life expectancy for someone with CF is around 31 years.

what causes CF
Cystic Fibrosis is caused by a single faulty gene (the Cystic Fibrosis Transmembrane Conductance Regulator – or CFTR gene). A person must inherit two copies of this faulty gene – one from each parent – to develop Cystic Fibrosis. There are around 2 million people in the UK who carry the faulty CFTR gene but show no symptoms – about one person in 25 of the population. If you do carry the gene you are unlikely to know.

If both parents are carriers, a child has:
  • A one in four chance of being born with CF
  • A two in four chance of being a carrier but not having the disease
  • A one in four chance of being completely free of CF – not having the condition nor being a carrier of the faulty CF gene.

tests
Carrier testing
People who are particularly at risk of carrying the defective CFTR gene can be detected by a simple mouthwash test.
Antenatal testing
This test determines early on in pregnancy whether a baby has CF and is usually offered to mothers who are recognised as being high risk of having a child with Cystic Fibrosis.
Newborn testing
Around a third of babies in the UK are tested for CF at birth using a heel-prick blood test. The CF Trust hopes that all babies will be tested by 2007.

symptoms of CF
Symptoms can include poor weight gain, troublesome coughs, repeated chest infections, salty sweat and abnormal stools. Later complications can include diabetes, liver disease and osteoporosis.

transplants
Lung transplantation is a form of treatment for some patients with Cystic Fibrosis, and is being performed in the UK and the other parts of the world in both children and adults. Lung transplantation is major surgery and therefore carries considerable risks. It is appropriate only for a patient who is severely ill and for whom all other forms of conventional treatment are no longer helpful. Not all patients at this stage of the disease are suitable for a transplant.

Treatment
People with Cystic Fibrosis face a daily regimen of treatment. This includes physiotherapy to help clear mucus from the lungs, enzyme supplements with food to aid digestion and oral, nebulised and intravenous antibiotics to fight infections.

the future
At present there is no cure for CF, but the faulty gene has been identified. Scientists are now able to direct their efforts towards actually correcting the basic CF defect rather than just treating symptoms. CF Trust-funded scientists are in the forefront of ground breaking gene therapy research which aims to add a healthy copy of the gene to the lungs.

 

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The Cystic Fibrosis Trust is the UK's only national charity dedicated to all aspects of Cystic Fibrosis (CF). It funds research to treat and cure CF and aims to ensure appropriate clinical care and support for people with Cystic Fibrosis.



Further information can be found on our website www.cftrust.org.uk. Help and advice for those affected by Cystic Fibrosis is available through our Helpline on 0845 859 1000. For all other inquiries the switchboard is 0208 464 7211.



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CRE552 Date of preparation May 2010

Supported by an educational grant from Abbott.





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