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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
Psychological and family functioning and quality of life in adolescents with cystic fibrosis
TL;DR: The results indicated that young people with a delayed diagnosis and those who are alienated from their families may be in need of additional psychosocial support and the importance of a more sophisticated model of well-being for adolescents with CF is supported.
Journal ArticleDOI
Regulation and Function of the Nucleotide Binding Domain Leucine-Rich Repeat-Containing Receptor, Pyrin Domain-Containing-3 Inflammasome in Lung Disease.
TL;DR: The NLRP3 and related inflammasomes, and their regulated cytokines or receptors, may represent novel diagnostic or therapeutic targets in pulmonary diseases and other diseases in which inflammation contributes to pathogenesis.
Journal ArticleDOI
Extensive surgical and comprehensive postoperative medical management for cystic fibrosis chronic rhinosinusitis.
Frank W. Virgin,Steven M. Rowe,Mary B. Wade,Amit Gaggar,Kevin Leon,K. Randall Young,Bradford A. Woodworth +6 more
TL;DR: Prospective evaluation indicates sinus surgery with MEMM is associated with marked improvement in sinus disease outcomes, and additional studies are necessary to confirm whether this treatment paradigm isassociated with improved CF pulmonary disease.
Journal ArticleDOI
Carbon Monoxide in Exhaled Breath Testing and Therapeutics
TL;DR: Current and future clinical trials will evaluate the clinical applicability of this gas as a biomarker and/or therapeutic in human disease, including smoking status, and inflammatory diseases of the lung and other organs.
Journal ArticleDOI
Perioperative Management of the Adult with Cystic Fibrosis
TL;DR: The optimal perioperative management of patients with CF requires an understanding of the relevant pathophysiology and the unique challenges presented by these patients, including special considerations such as liver and lung transplantation and pregnancy.
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