Open AccessBook
Cystic Fibrosis
TLDR
Advances in understanding and treatment of cystic fibrosis are summarized, focusing on pulmonary disease, which accounts for most morbidity and deaths.Abstract:
Cystic fibrosis is the most common autosomal recessive disorder in white people, with a frequency of about 1 in 2500 livebirths. Discovery of the mutated gene encoding a defective chloride channel in epithelial cells--named cystic fibrosis transmembrane conductance regulator (CFTR)--has improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has shown the disease's complexity. Gene replacement therapy is still far from being used in patients with cystic fibrosis, mostly because of difficulties of targeting the appropriate cells. Life expectancy of patients with the disorder has been greatly increased over past decades because of better notions of symptomatic treatment strategies. Here, we summarise advances in understanding and treatment of cystic fibrosis, focusing on pulmonary disease, which accounts for most morbidity and deaths.read more
Citations
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Journal ArticleDOI
Pathogen-host interactions in Pseudomonas aeruginosa pneumonia.
TL;DR: In addition to antibiotic therapy, strategies directed toward enhancing host defense and/or limiting excessive inflammation could be important to improve outcome in P. aeruginosa lung infections.
Journal ArticleDOI
Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs.
Christopher S. Rogers,David A. Stoltz,David K. Meyerholz,Lynda S. Ostedgaard,Tatiana Rokhlina,Peter J. Taft,Mark P. Rogan,Alejandro A. Pezzulo,Philip H. Karp,Omar A. Itani,Amanda C. Kabel,Christine L. Wohlford-Lenane,Greg J. Davis,Robert A. Hanfland,Tony L. Smith,Melissa Samuel,David Wax,Clifton N. Murphy,August Rieke,Kristin M. Whitworth,Aliye Uc,Timothy D. Starner,Kim A. Brogden,Joel Shilyansky,Paul B. McCray,Joseph Zabner,Randall S. Prather,Michael J. Welsh +27 more
TL;DR: The pig model may provide opportunities to address persistent questions about CF pathogenesis and accelerate discovery of strategies for prevention and treatment.
Journal ArticleDOI
Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation
Frank J. Accurso,Steven M. Rowe,John P. Clancy,Michael P. Boyle,Jordan M. Dunitz,Peter R. Durie,Scott D. Sagel,Douglas B. Hornick,Michael W. Konstan,Scott H. Donaldson,Richard B. Moss,Joseph M. Pilewski,Ronald C. Rubenstein,Ahmet Uluer,Moira L. Aitken,Steven D. Freedman,Lynn M. Rose,Nicole Mayer-Hamblett,Qunming Dong,Jiuhong Zha,Anne Stone,Eric R. Olson,Claudia L. Ordoñez,Preston W. Campbell,Melissa A. Ashlock,Bonnie W. Ramsey +25 more
TL;DR: This study showed that VX-770 was associated with within-subject improvements in CFTR and lung function and provides support for further studies of pharmacologic potentiation of CFTR as a means to treat cystic fibrosis.
Journal ArticleDOI
Differentiation of chronic sinus diseases by measurement of inflammatory mediators.
T. Van Zele,Sofie Claeys,Philippe Gevaert,G. Van Maele,Gabriele Holtappels,P. Van Cauwenberge,Claus Bachert +6 more
TL;DR: Wang et al. as mentioned in this paper suggested that CRS, NP, and CF-NP are distinct disease entities within the group of chronic sinus diseases, based on cellular and mediator profiles.
Journal ArticleDOI
Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation : a double-blind, randomised, phase 3 trial
Harry G.M. Heijerman,Edward F. McKone,Damian G. Downey,Eva Van Braeckel,Steven M. Rowe,Elizabeth Tullis,Marcus A. Mall,John Welter,Bonnie W. Ramsey,Charlotte M. McKee,Gautham Marigowda,Samuel M. Moskowitz,David Waltz,Patrick R Sosnay,Christopher Simard,Neil Ahluwalia,Fengjuan Xuan,Yaohua Zhang,Jennifer L. Taylor-Cousar,Karen McCoy +19 more
TL;DR: Elexacaftor plus tezacaftorplus ivacaftors provided clinically robust benefit compared with tezacftor plus ivACaftor alone, with a favourable safety profile, and shows the potential to lead to transformative improvements in the lives of people with cystic fibrosis who are homozygous for the F508del mutation.
References
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Journal ArticleDOI
Modifier genes in cystic fibrosis lung disease.
TL;DR: It is now clear that CFTR genotype alone does not account for the wide diversity in CF pulmonary phenotype and evidence is accumulating that secondary genetic factors separate from the CFTR locus significantly influence the severity of CF lung disease.
Related Papers (5)
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
Bonnie W. Ramsey,Jane C. Davies,N. Gerard McElvaney,Elizabeth Tullis,Scott C. Bell,Pavel Dř evínek,Matthias Griese,Edward F. McKone,Claire E. Wainwright,Michael W. Konstan,Richard B. Moss,Felix Ratjen,Isabelle Sermet-Gaudelus,Steven M. Rowe,Qunming Dong,Sally Rodriguez,Karl Yen,Claudia L. Ordoñez,J. Stuart Elborn +18 more