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Cystic Fibrosis
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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
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition
Alessandro Luciani,Valeria Rachela Villella,Speranza Esposito,Nicola Brunetti-Pierri,Diego L. Medina,Carmine Settembre,Manuela Gavina,Laura Pulze,Ida Giardino,Massimo Pettoello-Mantovani,Maria D'Apolito,Stefano Guido,Eliezer Masliah,Brian Spencer,Sonia Quaratino,Valeria Raia,Andrea Ballabio,Luigi Maiuri,Luigi Maiuri +18 more
TL;DR: It is shown how the defective CFTR results in defective autophagy and decreases the clearance of aggresomes, leading to the accumulation of protein aggregates and to lung inflammation.
Journal ArticleDOI
The future of cystic fibrosis care: a global perspective
Scott C. Bell,Marcus A. Mall,Hector H. Gutierrez,Milan Macek,Susan Madge,Jane C. Davies,Pierre-Régis Burgel,Elizabeth Tullis,Claudio Castaños,Carlo Castellani,Catherine A. Byrnes,Fiona Cathcart,Sanjay H. Chotirmall,Rebecca Cosgriff,Irmgard Eichler,Isabelle Fajac,Christopher H. Goss,Pavel Drevinek,Philip M. Farrell,Anna M. Gravelle,Trudy Havermans,Nicole Mayer-Hamblett,Nataliya Kashirskaya,Eitan Kerem,Joseph L. Mathew,Edward F. McKone,Lutz Naehrlich,Samya Z. Nasr,Gabriela R. Oates,Ciaran O'Neill,Ulrike Pypops,Karen S. Raraigh,Steven M. Rowe,Kevin W Southern,Sheila Sivam,Anne L. Stephenson,Anne L. Stephenson,Marco Zampoli,Felix Ratjen +38 more
TL;DR: Advances in clinical care have been multifaceted and include earlier diagnosis through the implementation of newborn screening programmes, formalised airway clearance therapy, and reduced malnutrition through the use of effective pancreatic enzyme replacement and a high-energy, high-protein diet.
Journal ArticleDOI
Sequential quality-control checkpoints triage misfolded cystic fibrosis transmembrane conductance regulator.
J. Michael Younger,Liling Chen,Hong Yu Ren,Meredith F.N. Rosser,Emma L. Turnbull,Chun-Yang Fan,Cam Patterson,Douglas M. Cyr +7 more
TL;DR: An ER membrane-associated ubiquitin ligase complex containing the E3 RMA1, the E2 Ubc6e, and Derlin-1 that cooperates with the cytosolic Hsc70/CHIP E3 complex to triage CFTR and CFTR Delta F508 is identified.
Journal ArticleDOI
European Cystic Fibrosis Society Standards of Care: Best Practice guidelines
Alan R. Smyth,Scott C. Bell,Snezana Bojcin,Mandy Bryon,Alistair J.A. Duff,Patrick A. Flume,Nataliya Kashirskaya,Anne Munck,Felix Ratjen,Sarah Jane Schwarzenberg,Isabelle Sermet-Gaudelus,Isabelle Sermet-Gaudelus,Kevin W Southern,Giovanni Taccetti,Gerald Ullrich,Sue Wolfe +15 more
TL;DR: The objective of the document is to give a broad overview of the standards expected for screening, diagnosis, pre-emptive treatment of lung disease, nutrition, complications, transplant/end of life care and psychological support.
Journal ArticleDOI
Clinical Mechanism of the Cystic Fibrosis Transmembrane Conductance Regulator Potentiator Ivacaftor in G551D-mediated Cystic Fibrosis
Steven M. Rowe,Sonya L. Heltshe,Sonya L. Heltshe,Tanja Gonska,Scott H. Donaldson,Drucy Borowitz,Daniel Gelfond,Scott D. Sagel,Umer Khan,Nicole Mayer-Hamblett,Nicole Mayer-Hamblett,Jill M. Van Dalfsen,Elizabeth Joseloff,Bonnie W. Ramsey,Bonnie W. Ramsey +14 more
TL;DR: Significant clinical and physiologic improvements were observed on initiation of ivacaftor in a broad patient population, including reduced infection with P. aeruginosa and significant improvements in mucociliary clearance, gastrointestinal pH, and microbiome were observed, providing clinical mechanisms underlying the therapeutic benefit of ivACaftor.
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