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Cystic fibrosis: pathophysiology and diagnosis

By Octavio Aragon Cuevas, DipClinPharm

Vladislav Kochelaevskiy/Dreamstime.comCystic fibrosis is a common genetic disease and, although many clinical features of the condition are respiratory, it also affects the gastrointestinal tract, liver, pancreas and reproductive organs  


Cystic fibrosis (CF) is common genetic disease and is caused by mutation of a single gene. CF affects respiratory function — sufferers produce thick mucus that is difficult to expectorate which, among other factors, leads to increased bacterial colonisation and infection.

Thick secretions can also cause gastrointestinal obstruction and blockage of bile ducts (causing liver disease) and pancreatic ducts (reducing the amount of pancreatic enzymes in the gut leading to malabsorption). The prognosis for patients with CF?is improving as a result of new treatments and multidisciplinary management co-ordinated through specialist centres. 

Octavio Aragon Cuevas is lead medical clinical pharmacist at Alder Hey Children’s NHS Foundation Trust.



Citation: Clinical Pharmacist URI: 11083277

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