Cystic Fibrosis
What causes CF?
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.
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The underlying molecular defect.
The link between clinical pathology and molecular defect.
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