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Cystic Fibrosis (CF)

What are the main mechanisms of disease in CF?
Dear Questioner
Thanks very much for your question. CF is the result of a genetic abnormality, in other words, there are mutations present in a gene that controls the way a certain protein is made. This protein is called CFTR which stands for “cystic fibrosis transmembrane conductance regulator”. This protein is responsible for the amount of salt which moves in and out of cells, and where salt moves water then follows. In CF the protein does not function correctly, which means that not enough salt is present on the outside of the cells, and therefore there is not enough water outside of the cells.
CFTR can be found throughout the body but the main parts that are affected in CF are the lungs and the digestive system. The result is that not enough water is on the airways and the mucus becomes a lot thicker and harder to cough up. When mucus builds up it allows bacteria to grow, leading to infections. Over time the lungs become damaged due to inflammation and infection, leading to progressive lung disease and respiratory failure. The digestive system is also affected by thickened mucus, which makes it difficult for enzymes to break down the food into small particles and for the body to absorb the nutrients. This means that it is often difficult for a person with CF to maintain a healthy weight. The management of people with CF has improved significantly over the past few decades and aims to ease the problems associated with CF.
There is an information leaflet available from the Cystic Fibrosis European Network which may be of interest:

You may also be interested in some information on the management of CF at the following website:

Best wishes

Lisa Kent
Stuart Elborn
The answer is edited by: Prof Stuart Elborn