Cystic fibrosis from the gastroenterologist's perspective
1Sydney Children's Hospital, School of Women's and Children's Health, High Street, Randwick, New South Wales 2031, Sydney, Australia.
Nature Reviews. Gastroenterology & Hepatology
|January 22, 2016
Summary
Cystic fibrosis (CF) affects multiple organs, including the gastrointestinal and hepatobiliary systems. New CFTR-targeting therapies offer potential benefits but require further study for their gut-related effects.
Area of Science:
- Gastroenterology
- Genetics
- Hepatology
Background:
- Cystic fibrosis (CF) is a genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- Increased survival in CF patients highlights the multisystemic nature of the disease, involving gastrointestinal and hepatobiliary complications.
- Adult CF patients face elevated risks of gastrointestinal and pancreatico-biliary malignancies.
Purpose of the Study:
- To review the gastrointestinal and hepatobiliary manifestations of cystic fibrosis.
- To discuss the impact of novel CFTR-targeting therapies on these systems.
- To explore the utility of intestinal endpoints in CF clinical trials.
Main Methods:
- Literature review of CF manifestations and emerging therapies.
- Analysis of disease consequences and therapeutic complications.
- Examination of research opportunities in CF gut health.
Main Results:
- CF affects the gastrointestinal and hepatobiliary tracts directly or indirectly through disease progression and treatment.
- Emerging CFTR modulator therapies present new avenues for research but their long-term gastrointestinal and hepatobiliary effects are not fully understood.
- Intestinal endpoints are valuable for assessing CFTR therapies and understanding gut pathophysiology.
Conclusions:
- Gastroenterologists need enhanced expertise in managing CF's multisystemic effects.
- Further research is crucial to elucidate the gastrointestinal and hepatobiliary impact of novel CFTR therapies.
- Understanding CF gut mechanisms is essential for improving patient outcomes.
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