RT Journal Article
SR Electronic
T1 Lung function is abnormal in 3-month-old infants with cystic fibrosis diagnosed by newborn screening
JF Thorax
JO Thorax
FD BMJ Publishing Group Ltd and British Thoracic Society
SP 874
OP 881
DO 10.1136/thoraxjnl-2012-201747
VO 67
IS 10
A1 Ah-Fong Hoo
A1 Lena P Thia
A1 The Thanh Diem Nguyen
A1 Andrew Bush
A1 Jane Chudleigh
A1 Sooky Lum
A1 Deeba Ahmed
A1 Ian Balfour-Lynn
A1 Siobhan B Carr
A1 Richard J Chavasse
A1 Kate L Costeloe
A1 John Price
A1 Anu Shankar
A1 Colin Wallis
A1 Hilary A Wyatt
A1 Angela Wade
A1 Janet Stocks
A1 on behalf of the London Cystic Fibrosis Collaboration (LCFC)
YR 2012
UL http://thorax.bmj.com/content/67/10/874.abstract
AB Background Long-term benefits of newborn screening (NBS) for cystic fibrosis (CF) have been established with respect to nutritional status, but effects on pulmonary health remain unclear. Hypothesis With early diagnosis and commencement of standardised treatment, lung function at ∼3 months of age is normal in NBS infants with CF. Methods Lung clearance index (LCI) and functional residual capacity (FRC) using multiple breath washout (MBW), plethysmographic (pleth) FRC and forced expirations from raised lung volumes were measured in 71 infants with CF (participants in the London CF Collaboration) and 54 contemporaneous healthy controls age ∼3 months. Results Compared with controls, and after adjustment for body size and age, LCI, FRCMBW and FRCpleth were significantly higher in infants with CF (mean difference (95% CI): 0.5 (0.1 to 0.9), p=0.02; 0.4 (0.1 to 0.7), p=0.02 and 0.9 (0.4 to 1.3), p<0.001, z-scores, respectively), while forced expiratory volume (FEV0.5) and flows (FEF25–75) were significantly lower (−0.9 (−1.3 to −0.6), p<0.001 and −0.7 (−1.1 to −0.2), p=0.004, z-scores, respectively). 21% (15/70) of infants with CF had an elevated LCI (>1.96 z-scores) and 25% (17/68) an abnormally low FEV0.5 (below −1.96 z-scores). While only eight infants with CF had abnormalities of LCI and FEV0.5, using both techniques identified abnormalities in 35% (24/68). Hyperinflation (FRCpleth >1.96 z-scores) was identified in 18% (10/56) of infants with CF and was significantly correlated with diminished FEF25–75 (r=−0.43, p<0.001) but not with LCI or FEV0.5. Conclusion Despite early diagnosis of CF by NBS and protocol-driven treatment in specialist centres, abnormal lung function, with increased ventilation inhomogeneity and hyperinflation and diminished airway function, is evident in many infants with CF diagnosed through NBS by 3 months of age.