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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
Inflammation, oxidative stress, and cardiovascular disease risk factors in adults with cystic fibrosis
TL;DR: The spectrum of risk factors for CVD in CF is reviewed here and epidemiological data further characterizing the presence and extent of atherogenic processes in CF patients would seem important to obtain.
Journal ArticleDOI
Multidrug–resistant organisms in cystic fibrosis: management and infection–control issues
Valerie Waters,Felix Ratjen +1 more
TL;DR: Until more is known about their pathogenicity and effect on clinical outcomes, physicians should be aware of the potential transmissibility of these organisms and implement adequate infection control strategies.
Journal ArticleDOI
The Incidence of Thoracic Outlet Syndrome
TL;DR: A prospective database of all patients who presented to a clinic with a diagnosis of potential TOS, as described below, established to attempt to answer the fundamental question of the incidence and prevalence of thoracic outlet syndrome.
Journal ArticleDOI
Changes in response to insulin and the effects of varying glucose tolerance on whole-body protein metabolism in patients with cystic fibrosis
Mahroukh Rafii,Karen P Chapman,Cynthia Stewart,Erin Kelly,A. K. Hanna,David C. Wilson,Elizabeth Tullis,Paul B. Pencharz +7 more
TL;DR: CFRD has an adverse effect on protein homeostasis by increasing net protein synthesis and correction of the glucose intolerance with insulin therapy would normalize whole-body protein metabolism.
Journal ArticleDOI
Biomarkers for cystic fibrosis lung disease: Application of SELDI-TOF mass spectrometry to BAL fluid
Gordon MacGregor,Robert D. Gray,Thomas N. Hilliard,M. Imrie,A. Christopher Boyd,Eric W.F.W. Alton,Andrew Bush,Jane C. Davies,J. Alastair Innes,David J. Porteous,Andrew P. Greening +10 more
TL;DR: Bronchoalveolar lavage fluid from 39 CF children and 38 respiratory disease controls was analysed by surface enhanced laser desorption ionisation time of flight (SELDI-TOF) mass spectrometry and recognized proteins were assessed for CF disease specificity.
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