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.
Related news and insights
Vertex Pharmaceuticals announced its New Drug Submission for Trikafta, the investigational triple combination medicine, has been accepted for Priority Review by Health Canada for the treatment of cystic fibrosis (CF) in people ages 12 years and older.
Vertex Pharmaceuticals Incorporated announced the FDA expanded the eligibility for Trikafta (elexacaftor/tezacaftor/ivacaftor and ivacaftor) to include people with cystic fibrosis (CF) ages 12 years and older with certain mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that are responsive to Trikafta based on in vitro data.
The European Commission has approved Symkevi (tezacaftor/ivacaftor) with Kalydeco (ivacaftor), from Vertex, for eligible children with cystic fibrosis (CF) aged 6-11 years. The combination therapy offers a treatment option for CF patients who are homozygous for F508del in this age group, and is the only medicine to treat the underlying cause of CF in this patient group.
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