Minimal change in structural, functional and inflammatory markers of lung disease in newborn screened infants with cystic fibrosis at one year

• Published in: Journal of cystic fibrosis 2020-11, Vol.19 (6), p.896-901
• Main Authors: Davies, Gwyneth, Thia, Lena P, Stocks, Janet, Bush, Andrew, Hoo, Ah-Fong, Wade, Angie, Nguyen, The Thanh Diem, Brody, Alan S, Calder, Alistair, Klein, Nigel J, Carr, Siobhán B, Wallis, Colin, Suri, Ranjan, Pao, Caroline S, Ruiz, Gary, Balfour-Lynn, Ian M
• Format: Article
• Language: English
• Subjects: Airway inflammation; Biomarkers - analysis; Bronchoalveolar Lavage; Chest computed tomography; Cystic fibrosis; Cystic Fibrosis - complications; Cystic Fibrosis - physiopathology; Disease Progression; Female; Humans; Infant; Infant lung function; Infant, Newborn; Infections - diagnosis; Inflammation - diagnosis; Male; Neonatal Screening; Neutrophil elastase; Newborn screening; Respiratory Function Tests; Tomography, X-Ray Computed; United Kingdom
• ISSN: 1569-1993; 1873-5010
• DOI: 10.1016/j.jcf.2020.01.006

•We report lung structure, function, inflammation and infection outcomes at one year.•Deterioration in lung function and structure was much less than previously reported.•There were only weak associations between inflammation, abnormal physiology and structural changes.•Ongoing follow up of this newborn screened cohort is needed to clarify long term implications. With the widespread introduction of newborn screening for cystic fibrosis (CF), there has been considerable emphasis on the need to develop objective markers of lung health that can be used during infancy. We hypothesised that in a newborn screened (NBS) UK cohort, evidence of airway inflammation and infection at one year would be associated with adverse structural and functional outcomes at the same age. Infants underwent lung function testing, chest CT scan and bronchoscopy with bronchoalveolar lavage (BAL) at 1 year of age when clinically well. Microbiology cultures were also available from routine cough swabs. 65 infants had lung function, CT and BAL. Mean (SD) lung clearance index and forced expiratory volume in 0.5 s z-scores were 0.9(1.2) and -0.6(1.1) respectively; median Brody II CF-CT air trapping score on chest CT =0 (interquartile range 0–1, maximum possible score 27). Infants isolating any significant pathogen by 1 yr of age had higher LCI z-score (mean difference 0.9; 95%CI:0.4–1.4; p = 0.001) and a trend towards higher air trapping scores on CT (p = 0.06). BAL neutrophil elastase was detectable in 23% (10/43) infants in whom BAL supernatant was available. This did not relate to air trapping score on CT. In this UK NBS cohort at one year of age, lung and airway damage is much milder and associations between inflammation, abnormal physiology and structural changes were at best weak, contrary to our hypothesis and previously published reports. Continued follow-up will clarify longer term implications of these very mild structural, functional and inflammatory changes.