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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
Cost-effectiveness of 4 Neonatal Screening Strategies for Cystic Fibrosis
TL;DR: Installing neonatal screening for cystic fibrosis screening for neonates is a good economic option, and positive health effects can also be expected, and immunoreactive trypsin + DNA + denaturing gradient gel electrophoresis are the most cost-effective strategies.
Journal ArticleDOI
Acquired Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction in Chronic Bronchitis and Other Diseases of Mucus Clearance.
TL;DR: Emerging data strongly suggest that cigarette smoke and its components can lead to acquired cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction, which is associated with chronic bronchitis and may contribute to smoking-related systemic diseases.
Journal ArticleDOI
The clinical significance of the gut microbiota in cystic fibrosis and the potential for dietary therapies
Li Li,Shawn Somerset +1 more
TL;DR: The gut microbiota have some potential in CF management by affecting inflammatory and immune responses, and influencing aberrant mucosa, and dietary modification of gut microbiota to optimise nutritional status in CF may be feasible, although more CF-specific studies are warranted.
Journal ArticleDOI
The radiology of chronic lung disease in children
Umberto G. Rossi,C M Owens +1 more
TL;DR: The prevalence of CLD has increased in the past decade because of the more advanced and intensive respiratory support provided for compromised children and additionally the overall improved survival of preterm babies.
Journal ArticleDOI
IgG subclass antibodies to Pseudomonas aeruginosa in sera from patients with chronic Ps. aeruginosa infection investigated by ELISA.
TL;DR: Elevated levels of IgG2 and lgG3 antibodies to Ps.
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.
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