Cystic Fibrosis is a chronic, progressive, and frequently fatal genetic disease primarily affecting the respiratory and digestive systems in children and young adults. 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.
To find out more about Cystic Fibrosis visit our dedicated Learning Zone, which contains further information on treatment, medication and guidelines for this condition.
This guideline covers the planning and management of end of life and palliative care in for infants, children and young people (aged 0-17 years) with life-limiting conditions. It aims to involve children, young people and their families...
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Vertex Pharmaceuticals Incorporated announced that the European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion for Kaftrio -(ivacaftor/tezacaftor/elexacaftor) in a combination regimen with Kalydeco (ivacaftor) 150 mg to treat people with cystic fibrosis (CF) ages 12 and older with one F508del mutation and one minimal function mutation (F/MF) or two F508del mutations (F/F) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Vertex Pharmaceuticals Incorporated announced that the European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion for the label extension of Kalydeco (ivacaftor), to include the treatment of children and adolescents with cystic fibrosis (CF), ages 6 months and older weighing at least 5 kg who have the R117H mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene .