Cystic fibrosis

@article{Osullivan2009CysticF,
  title={Cystic fibrosis},
  author={Brian P. O'sullivan and Steven D. Freedman},
  journal={The Lancet},
  year={2009},
  volume={373},
  pages={1891-1904}
}
Cystic fibrosis is the most common lethal genetic disease in white populations. The outlook for patients with the disease has improved steadily over many years, largely as a result of earlier diagnosis, more aggressive therapy, and provision of care in specialised centres. Researchers now have a more complete understanding of the molecular-biological defect that underlies cystic fibrosis, which is leading to new approaches to treatment. One of these treatments, hypertonic saline, is already in… 
Background and Epidemiology.
TLDR
The epidemiology of CF is reviewed, including trends in incidence and prevalence, clinical characteristics, common complications, and survival.
Cystic Fibrosis: Recent Successes Present New Challenges
TLDR
There is a progressive increase in survival for patients with cystic fibrosis if improvements continue at the rate observed between 2000 and 2010, and the median survival of children born with the disease in 2010 exceeds 50 years, suggesting that more patients with CF will survive into adulthood.
From pipeline to patient: new developments in cystic fibrosis therapeutics
TLDR
Traditional areas of CF therapeutics continue to be developed, with modest success, including drugs to modulate the airway surface liquid, new pancreatic supplements, antibiotics and new treatments for endocrine complications of CF.
The clinical approach to lung disease in patients with cystic fibrosis.
TLDR
Clinicians caring for patients with CF should maximize current therapies with the goal of preserving lung function until the time a more definitive curative or controller medication is developed, and empowering patients in the process of providing their own care is a key to achieving this goal.
STUDIES AS A BASIS FOR A POSSIBLE INTRODUCTION OF NEWBORN SCREENING FOR CYSTIC FIBROSIS IN SWEDEN
Background: Cystic fibrosis (CF) is the most common life-shortening autosomal recessive disease in Caucasians. It is a multi-organ disease that results from mutations in the gene that encodes the CF
Pulmonary Disease in Cystic Fibrosis
TLDR
The pathophysiology of CF lung disease is reviewed and current and emerging therapies for this progressive lung disease are described, including small molecule potentiators and correctors that target specific CFTR mutations.
Cystic Fibrosis: Advancing Along the Continuum.
TLDR
Facing management of maturing-life issues, advanced practice nurses (APNs) in pediatrics now find themselves needing to collaborate with or facilitate transition of care to other APNs, such as nurse midwives and adultAPNs, as well as their counterpart specialists in medicine, all while maintaining open communication with the patient, family and managing CF center.
Modulators of CFTR. Updates on clinical development and future directions.
TLDR
A thorough review of the results obtained from clinical trials of CFTR modulators is presented, which provide a brief summary of their mechanism of action and presents the potential to transform prognosis for a considerable number of patients.
Pathophysiology of Cystic Fibrosis Liver Disease: A Channelopathy Leading to Alterations in Innate Immunity and in Microbiota
TLDR
An overview of the current understanding of the pathophysiology of the disease is provided and a potential target for intervention is discussed.
Genetics of Cystic Fibrosis: Clinical Implications.
  • M. Egan
  • Medicine
    Clinics in chest medicine
  • 2016
TLDR
Understanding specific CF genotypes is essential for providing state-of-the art care to patients and new therapies are being developed to target mutant CFTR and restore CFTR function.
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