S7 Evolution of lung function during the first two years of life in infants with cystic fibrosis diagnosed by newborn screening

Brennan, Lucy; Thia, L.P.; Hoo, Ah‐Fong; Nguyen, Thanh-Diem; Chudleigh, Jane; Lum, Sooky; Wade, Angie; Wallis, Colin; Bush, Andrew; Balfour‐Lynn, Ian M.; Wyatt, Hilary; Carr, Siobhán; Stocks, J

doi:10.1136/thoraxjnl-2013-204457.13

Cited by 4 publications

(2 citation statements)

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“…However, in the first 2 years of life, LCI will fail to detect a substantial number of children who have abnormal infant spirometry, so the two tests should be combined in this age group 161 . Two large collaborative projects have evaluated lung function in infants with differing results: although both groups reported that lung function was abnormal at diagnosis 162,163 , the Australian Respiratory Early Surveillance Team for Cystic Fibrosis (AREST-CF) reported rapid and profound deterioration 164 , whereas the London CF Collaboration (LCFC) showed improvement over the first year of life, with stabilization in the second year 165,166 . These differences could be explained by differences in treatment strategies or in the characteristics of the population studied.…”

Section: Detection Of Early Lung Diseasementioning

confidence: 99%

Cystic fibrosis

Ratjen

Bell

Rowe

et al. 2015

Nat Rev Dis Primers

431

427

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Cystic fibrosis is an autosomal recessive, monogenetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The gene defect was first described 25 years ago and much progress has been made since then in our understanding of how CFTR mutations cause disease and how this can be addressed therapeutically. CFTR is a transmembrane protein that transports ions across the surface of epithelial cells. CFTR dysfunction affects many organs; however, lung disease is responsible for the vast majority of morbidity and mortality in patients with cystic fibrosis. Prenatal diagnostics, newborn screening and new treatment algorithms are changing the incidence and the prevalence of the disease. Until recently, the standard of care in cystic fibrosis treatment focused on preventing and treating complications of the disease; now, novel treatment strategies directly targeting the ion channel abnormality are becoming available and it will be important to evaluate how these treatments affect disease progression and the quality of life of patients. In this Primer, we summarize the current knowledge, and provide an outlook on how cystic fibrosis clinical care and research will be affected by new knowledge and therapeutic options in the near future. For an illustrated summary of this Primer, visit: http://go.nature.com/4VrefN.

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Section: Detection Of Early Lung Diseasementioning

confidence: 99%

Cystic fibrosis

Ratjen

Bell

Rowe

et al. 2015

Nat Rev Dis Primers

431

427

View full text Add to dashboard Cite

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“…Although at 3 months of age, lung clearance index (LCI) was elevated and remained elevated at 1 year, lung function [forced expiratory volume (FEV) 0.5] had improved. At 2 years of age, lung function indices were the same as at 1 year of age [ Brennan and Thia, 2013 ; Nguyen et al . 2014 ].…”

Section: Lessons Learned From Follow-up Studies After Newborn Screenimentioning

confidence: 99%

Best practices in the treatment of early cystic fibrosis lung disease

Proesmans

2016

Ther Adv Respir Dis

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For many years, management of cystic fibrosis (CF) lung disease was focused on symptomatic treatment of chronic lung infection, which is characterized by cough and sputum production, leading to progressive lung damage. With increasing survival and better knowledge of the pathogenesis of CF lung disease, it has become clear that treatment has to start very early because lung damage occurs in young patients, often before obvious symptoms appear. The arrival of new cystic fibrosis transmembrane conductance-regulator (CFTR)-correcting therapies will bring more opportunities to prevent the disease, apart from only treating chronic lung infection.In this review, a summary of the current knowledge of early CF lung disease is provided, based on animal model studies, as well as on data obtained from well structured follow-up programs after newborn screening (NBS). The most important clinical guidelines for treating young CF patients are also summarized.

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