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Cystic Fibrosis
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Cystic Fibrosis

Last updated: 9th Mar 2023

It is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). When the CFTR ceases to function, it affects the secretion of digestive fluids, mucus and sweat.

Cystic Fibrosis is a multi-system disease affecting organs and tissues where CFTR is expressed. The most common clinical features are exocrine pancreatic insufficiency, mucus discharge from the lungs, bronchiectasis with chronic airway infection, leading to respiratory failure and premature death. Mucus also clogs the pancreas, which stops enzymes reaching food in the gut and helping with digestion. It is also related to other conditions, including diabetes, osteoporosis, infertility in males, and liver problems.

Those with Cystic Fibrosis are prescribed antibiotics throughout their life, either by mouth or using inhaled antibiotic therapy. Bronchodilator and steroids are also used to relax and reduce inflammation in the airways. Physical activity and the use of airway clearance techniques can also help clear mucus from the lungs. Emerging therapies include CFTR modulators help improve the function of the faulty CFTR protein.


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