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Improving gastrointestinal health in children and young people with cystic fibrosis
  1. Tim Lee1,
  2. Claire Nissenbaum2
  1. 1 Leeds Centre for Children’s Respiratory Medicine, Leeds Children's Hospital, Leeds, UK
  2. 2 Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK
  1. Correspondence to Dr Tim Lee, Leeds Centre for Children’s Respiratory Medicine, Leeds Children's Hospital, Leeds, LS1 3EX, UK; t.w.r.lee{at}

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Cystic fibrosis (CF) is a well-characterised genetic disease caused by reduced function or absence of cystic fibrosis transmembrane regulator (CFTR) protein. In the 1930s–1950s, the gastrointestinal (GI) manifestations were the most life-threatening—the term ‘cystic fibrosis’ was a description first used by Dorothy Andersen related to the characteristic postmortem histology of the pancreas, and death before school age was common, with severe malnutrition due to pancreatic exocrine insufficiency a major contributor. The introduction of pancreatic enzyme replacement therapy resulted in the focus of clinical management moving to the lungs.

The landscape of CF care is now once again dramatically changing with the introduction of CFTR modulator drugs.1 These medications act directly to improve the function of the mutant protein and in older children and adults have been shown to significantly improve lung function, body mass index and quality of life, reduce pulmonary exacerbation by up to 78%, as well as reduce sweat chloride to normal or borderline levels. Life expectancy is expected to increase significantly. In the UK, elexacaftor/tezacaftor/ivacaftor triple-combination CFTR modulator is now available from the age of 2 years for those with phe508del and other responsive CFTR mutations and ivacaftor from 1 month of age for those with gating mutations of CFTR. As a result, the predominant and most burdensome symptoms of CF may now be switching back to the GI tract, although it should be noted that 5–10% of people with CF have …

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  • Contributors TL wrote the first draft and acts as the corresponding author. CN contributed to design and second draft. Both authors were involved in conception and producing the final draft for submission.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests TL has received consultancy fees from Vertex Pharmaceuticals, who market CFTR modulator drugs.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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