CF

What is Cystic Fibrosis? 

Cystic Fibrosis (as most people would have learnt about at GCSE) is an inherited disease. It affects over 9,000 people in the UK with 5 babies every week being born with the disease. In order to inherit it you must receive two faulty genes, 1 from each of your parents, as such carriers of the disease have a 1 in 4 chance of having a baby who suffers from Cystic Fibrosis. It’s caused by a mutation on the long arm of chromosome number 7 in the gene for the protein cystic fibrosis transmembrane conductance regulator. This impairs the cells’ ability to manage chloride.    

What are the symptoms?

While there are many possible effects (most of which are detailed in the diagram below) the disease mainly affects the lungs and the ducts of the pancreas. As chloride cannot be managed effectively secretions throughout the body become thickened. In the pancreas tubes are blocked so digestive enzymes cannot reach the small intestine, as a result food is not broken down and sufferers appear malnourished. This can also cause diabetes in some people as insulin too is produced in the pancreas. The thickening also affects the mucus that lines the lungs. Over time it fills tubes, hardens and blocks them reducing lung capacity, it is this that makes the disease so fatal. One very odd symptom of CF is that when kissed the skin of a sufferer will taste unnaturally salty due to the inability to manage chloride.   

How is the disease dealt with?    

Medication:   

For the lungs and airways the medication is based around trying to increase lung capacity by breaking down mucus and making breathing easier by opening up airways. To this end bronchodilator drugs are used (commonly used for sufferers of asthma) to relax the muscles that surround the airways. Steroids are also taken to reduce the swelling of airways, while antibiotics are used to deal with infections and DNase (an enzyme) to break down the mucus.   

For the digestive system pancreatic enzymes should be taken with the first bite of every meal to aid in digestion along with nutritional supplements. Those who also suffer from diabetes as a result of CF would also take insulin.   

Physiotherapy: 

What is also commonly used a series of percussions on the chest in an attempt to loosen the mucus sitting on the person’s chest.      

Transplant: 

In the most serious of cases where both longs fail a lung transplant may be necessary. While there is a relatively high success rate (70%) for the operation itself, after 1 or 2 years the new lungs fail too. 

How has treatment progressed? 

In recent decades the life expectancy for sufferers has greatly increased. People today now have a life expectancy of around 40 with newly born babies having a slightly higher prediction. This is mostly due to the speed and extent to which the treatments are now administered.   

For more information on the disease visit: 


http://en.wikipedia.org/wiki/Cystic_fibrosis  
http://www.cftrust.org.uk/aboutcf/whatiscf/  


To see videos of real life stories:  


http://www.nhs.uk/Conditions/cystic-fibrosis/Pages/Introduction.aspx

Alex Butcher