期刊
NATURE REVIEWS DISEASE PRIMERS
卷 1, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrdp.2015.10
关键词
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资金
- Cystic Fibrosis Foundation Therapeutics
- US National Institutes of Health [NIH]
- Vertex Pharmaceuticals
- PTC Therapeutics
- Novartis
- Forest Research Institute
- Bayer Healthcare
- Galapagos
- NIH [P30 DK089507, R01HLI03965, R01A1101307, UM1HLI19073, R01 DC04797]
- Food and Drug Administration [R01FD003704]
- Cystic Fibrosis Foundation
- Transave Inc.
- L. Hoffmann-La Roche Ltd
- Johns Hopkins University
- European Cystic Fibrosis Society
- Medscape and Gilead Sciences
- European Union Health Commission (BESTCILIA)
- National Health and Medical Research Council of Australia
- Cystic Fibrosis Foundation Clinical Research Grant
- Abbott Pharmaceuticals
- Gilead Sciences
- Canadian Institutes of Health Research
- National Heart, Lung, and Blood Institute
- Genentech
- Boehringer Ingelheim
- Roche
- Office of Health and Medical Research, Queensland Health
- Queensland Children's Foundation
- UK National Institute of Health Research Respiratory Disease Biomedical Research Unit
- Harefield National Health Service Foundation Trust
- Imperial College London
Cystic fibrosis is an autosomal recessive, monogenetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The gene defect was first described 25 years ago and much progress has been made since then in our understanding of how CFTR mutations cause disease and how this can be addressed therapeutically. CFTR is a transmembrane protein that transports ions across the surface of epithelial cells. CFTR dysfunction affects many organs; however, lung disease is responsible for the vast majority of morbidity and mortality in patients with cystic fibrosis. Prenatal diagnostics, newborn screening and new treatment algorithms are changing the incidence and the prevalence of the disease. Unfit recently, the standard of care in cystic fibrosis treatment focused on preventing and treating complications of the disease; now, novel treatment strategies directly targeting the ion channel abnormality are becoming available and it wilt be important to evaluate how these treatments affect disease progression and the quality of Life of patients. In this Primer, we summarize the current knowledge, and provide an outlook on how cystic fibrosis clinical care and research wilt be affected by new knowledge and therapeutic options in the near future. For an illust\rated summary of this Primer, visit: http://gonature.com/4VrefN.
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