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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
Liver transplantation in patients with cystic fibrosis: analysis of United Network for Organ Sharing data.
Manuel Mendizabal,K. Rajender Reddy,James Cassuto,Kim M. Olthoff,Thomas W. Faust,George A. Makar,Elizabeth B. Rand,Abraham Shaked,Peter L. Abt +8 more
TL;DR: Long‐term outcomes in patients with CFLD are acceptable but are inferior in comparison with the outcomes of those undergoing transplantation for other etiologies.
Journal ArticleDOI
Rescue of Dysfunctional Autophagy Attenuates Hyperinflammatory Responses from Cystic Fibrosis Cells
Matthew L. Mayer,Christoph J. Blohmke,Reza Falsafi,Chris Fjell,Laurence Madera,Stuart E. Turvey,Robert E. W. Hancock +6 more
TL;DR: It is suggested that dysfunctional autophagosome clearance contributes to heightened inflammatory responses from CF transmembrane receptor mutant cells and autophagy and AMPK–Akt signaling are highlighted as novel anti-inflammatory targets in CF.
Journal ArticleDOI
Critical role of CFTR in uterine bicarbonate secretion and the fertilizing capacity of sperm.
Hsiao Chang Chan,Qi Xian Shi,Chen Xi Zhou,Xiao Fei Wang,Wen Ming Xu,Wen Ying Chen,Wen Ying Chen,Ai Jun Chen,Ya Ni,Yu Ying Yuan +9 more
TL;DR: Results are consistent with a critical role of CFTR in controlling uterine HCO3- secretion and sperm fertilizing capacity, suggesting that CFTR may be a potential target for post-meiotic regulation of fertility.
Journal ArticleDOI
Role of iron in the pathogenesis of respiratory disease.
Khadem Ali,Richard Kim,R. Karim,Jemma R. Mayall,Kristy L. Martin,Ali Shahandeh,Firouz Abbasian,Malcolm R. Starkey,Véronique Loustaud-Ratti,Daniel M. Johnstone,Elizabeth A. Milward,Philip M. Hansbro,Jay C. Horvat +12 more
TL;DR: Clinical and experimental evidence is reviewed that highlights the potential importance of iron in respiratory diseases and infections and increased understanding of the role that iron plays in the pathogenesis of lung disease and respiratory infections may help inform novel therapeutic strategies.
Journal ArticleDOI
Post-operative infections in cystic fibrosis and non-cystic fibrosis patients after lung transplantation
Ryan W. Bonvillain,Vincent G. Valentine,G.A. Lombard,S.G. LaPlace,Gundeep Dhillon,Guoshun Wang +5 more
TL;DR: The normal lungs implanted into CF patients had significantly higher susceptibility to Pseudomonas infections than those into non-CF patients, suggesting that defective innate immunity outside the lungs contributes to CF lung pathogenesis.
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
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