1 Pediatric Respiratory Medicine, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
2 Department of Diagnostic, Interventional, and Pediatric Radiology, Inselspital, University of Bern, Bern, Switzerland.
Ann Am Thorac Soc. 2018 Dec;15(12):1434-1442. doi: 10.1513/AnnalsATS.201712-967OC.
Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by heterogeneous airway disease. Traditional lung function techniques (e.g., spirometry) may underestimate severity and complexity of PCD.
We assessed lung impairment in individuals with PCD using structural and functional magnetic resonance imaging (MRI) and different lung function techniques.
A total of 30 study participants with PCD (median, 13.4 yr; range, 5-28 yr) underwent structural and functional MRI, spirometry, and multiple breath washout (MBW) on the same day. Primary endpoints included structural MRI morphology scores, relative ventilation, and perfusion impairment from functional MRI, forced expiratory volume in 1 second (FEV) from spirometry, and lung clearance index (LCI) from MBW.
Severity and complexity of PCD lung disease varied significantly between individuals. Structural lung disease was detected in all subjects with a median (interquartile range) extent score of 10.3 (7-19; maximum score = 60). Functional MRI ventilation impairment was present in 52% of subjects, affecting 24.2% (21.1 to 25.2%) of the lung. Relative perfusion impairment was detected in 78% of individuals affecting 21.1% (19.4 to 25.9%) of the lung. LCI was abnormal in 83% (median, 8.3 [2.6 to 13.2] z-scores) and FEV was abnormal in 27% (-0.5 [-1.6 to 0.3] z-scores) of individuals. Concordance between spirometry and imaging outcomes was poor, with 52% of patients showing both abnormal MRI and LCI values, but normal FEV.
Discordance between lung function and imaging outcomes in patients with PCD supports the use of both imaging and lung function, such as MBW, for surveillance of this heterogeneous disease.
原发性纤毛运动障碍（PCD）是一种遗传性疾病，其特征为气道疾病异质性。传统的肺功能技术（例如，肺活量测定法）可能低估 PCD 的严重程度和复杂性。
我们使用结构和功能磁共振成像（MRI）以及不同的肺功能技术来评估 PCD 个体的肺损伤。
共有 30 名 PCD 研究参与者（中位数年龄，13.4 岁；范围，5-28 岁）在同一天接受了结构和功能 MRI、肺活量测定法和多次呼吸冲洗（MBW）检查。主要终点包括结构 MRI 形态评分、功能 MRI 显示的相对通气和灌注受损、肺活量测定法得出的 1 秒用力呼气量（FEV）和 MBW 得出的肺清除指数（LCI）。
个体间 PCD 肺部疾病的严重程度和复杂性差异很大。所有研究对象均检测到结构肺疾病，中位数（四分位距）程度评分为 10.3（7-19；最高分=60）。52%的研究对象存在功能 MRI 通气受损，影响了 24.2%（21.1-25.2%）的肺部。78%的个体存在相对灌注受损，影响了 21.1%（19.4-25.9%）的肺部。83%（中位数，8.3[2.6-13.2]z 分数）的个体的 LCI 异常，27%（-0.5[-1.6-0.3]z 分数）的个体的 FEV 异常。肺活量测定法和影像学结果之间的一致性较差，52%的患者 MRI 和 LCI 值异常，但 FEV 正常。
PCD 患者的肺功能和影像学结果之间存在差异，支持使用影像学和肺功能（如 MBW）来监测这种异质性疾病。
