Ventilation inhomogeneity in children with primary ciliary dyskinesia

• Published in: Thorax Vol. 67; no. 1; pp. 49 - 53
• Main Authors: Green, Kent, Buchvald, Frederik F, Marthin, June Kehlet, Hanel, Birgitte, Gustafsson, Per M, Nielsen, Kim Gjerum
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd and British Thoracic Society 01.01.2012; BMJ Publishing Group; BMJ Publishing Group LTD
• Subjects: Adolescent; Age; asthma; Biological and medical sciences; bronchiectasis; Cardiology. Vascular system; Child; Child, Preschool; Cilia - ultrastructure; Complex syndromes; Cross-Sectional Studies; Cystic Fibrosis; Diagnostic tests; Dyskinesia; exhaled airway markers; Female; Follow-Up Studies; Forced Expiratory Volume - physiology; Humans; imaging/CT MRI etc; Infant; Infant, Newborn; Kartagener Syndrome - pathology; Kartagener Syndrome - physiopathology; lung; Lung - pathology; Lung - physiopathology; lung clearance index; Lung diseases; lung physiology; Male; MBW; Medical genetics; Medical sciences; Microscopy; Mucociliary Clearance - physiology; Nitric oxide; paediatric asthma; paediatric lung disaese; paediatric physician; Patients; Pneumology; Prognosis; Pulmonary Ventilation - physiology; rare lung diseases; Respiratory Function Tests; Severity of Illness Index; Spirometry; Variables; Human; Malformation; Respiratory disease; Situs inversus; Immotile cilia syndrome; ENT disease; Anesthesia; Ventilation; Circulatory system; Cardiology; Congenital disease; Child
• ISSN: 0040-6376; 1468-3296; 1468-3296
• DOI: 10.1136/thoraxjnl-2011-200726

BackgroundThe lung clearance index (LCI) derived from the multiple breath inert gas washout (MBW) test reflects global ventilation distribution inhomogeneity. It is more sensitive than forced expiratory volume in 1 s (FEV1) for detecting abnormal airway function and correlates closely with structural lung damage in children with cystic fibrosis, which shares features with primary ciliary dyskinesia (PCD). Normalised phase III slope indices Scond and Sacin reflect function of the small conducting and acinar airways, respectively. The involvement of the peripheral airways assessed by MBW tests has not been previously described in PCD.MethodsA cross-sectional MBW study was performed in 27 children and adolescents with verified PCD, all clinically stable and able to perform lung function tests. LCI, Scond (n=23) and Sacin (n=23) were derived from MBW using a mass spectrometer and sulfur hexafluoride as inert marker gas. MBW indices were compared with present age, age at diagnosis and spirometry findings, and were related to published normative values.ResultsLCI, Scond and Sacin were abnormal in 85%, 96% and 78% of patients with PCD and in 81%, 93% and 79%, respectively, of 13/27 subjects with normal FEV1. LCI and Sacin correlated significantly while Scond did not correlate with any other lung function parameters. None of the lung function measurements correlated with age or age at diagnosis.ConclusionsPCD is characterised by marked peripheral airway dysfunction. MBW seems promising in the early detection of lung damage, even in young patients with PCD. The relationship of MBW indices to the outcome of long-term disease and their role in the management of PCD need to be assessed.