Cystic fibrosis

  title={Cystic fibrosis},
  author={J. Stuart Elborn},
  journal={The Lancet},
  • J. Elborn
  • Published 25 November 2016
  • Medicine
  • The Lancet
Cystic fibrosis is a common life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, North America, and Australia. The disease is caused by mutation of a gene that encodes a chloride-conducting transmembrane channel called the cystic fibrosis transmembrane conductance regulator (CFTR), which regulates anion transport and mucociliary clearance in the airways. Functional failure of CFTR results in mucus retention and chronic infection and subsequently in local airway… 
Cystic fibrosis: physiopathology and the latest pharmacological treatments.
The importance of an early diagnosis of CF to establish, as soon as possible, a primary therapy for symptomatic prevention and relief is presented and the new therapeutic approaches, that include CFTR modulators, are mentioned.
Cystic fibrosis heterozygosity: Carrier state or haploinsufficiency?
  • D. Fisman
  • Medicine
    Proceedings of the National Academy of Sciences
  • 2020
Evidence is provided that CF heterozygosity may represent a haploinsufficiency state, analogous to that seen with thalassemia, where individuals with a single copy of the disease-causing allele do suffer adverse health effects, presumably due to production of the gene’s product at lower levels than would be seen in noncarriers.
The Potential Causes of Cystic Fibrosis-Related Diabetes
Different factors that may contribute to CFRD are discussed, including inflammation and ductal cells, which infiltrate the pancreas and exert a negative impact on insulin secretion, causing dysregulation of glucose homeostasis in CF adults.
Pathophysiology of Cystic Fibrosis Liver Disease: A Channelopathy Leading to Alterations in Innate Immunity and in Microbiota
An overview of the current understanding of the pathophysiology of the disease is provided and a potential target for intervention is discussed.
Aspergillus colonization and antifungal immunity in cystic fibrosis patients.
Current understanding is presented with respect to when people with CF acquire infection with A. fumigatus and antifungal immune responses by CF immune cells and when CFTR-deficient phagocytes are involved.
Chloride Conductance, Nasal Potential Difference and Cystic Fibrosis Pathophysiology
The anion permeability through CFTR, mainly chloride, but bicarbonate as well, is the most critical factor in CF airway pathophysiology and treatments primarily directed to correct CFTR function and/or airway acidity are clearly a priority.
Cystic Fibrosis: Advancing Along the Continuum.
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.
CFTR Modulator Therapy and Its Impact on Lung Transplantation in Cystic Fibrosis
The effects of new therapies are described, with a focus on the subgroup of individuals with ACFLD, to provide an update on the recent outcomes after lung transplantation for individuals with CF and to discuss the referral, evaluation, and timing for lung transplation as the ultimate therapeutic option in view of the new treatments available in CF.
Thymosin alpha 1 exerts beneficial extrapulmonary effects in cystic fibrosis.
It is demonstrated that thymosin alpha1 can also have beneficial effects in extrapulmonary pathology, and restored barrier integrity and immune homeostasis in the inflamed gut of CF mice as well as in mice with the metabolic syndrome, a disorder that may arise in CF patients with high caloric intake despite pancreatic sufficiency.
Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population
In the general population, carriers of the cystic fibrosis mutation CFTR Phe508del have a normal lifespan but an increased risk of chronic bronchitis, bronchiectasis and lung cancer, and in the carriers, carriers did not differ from non-carriers concerning lung function or any other morbidity outcomes.