Primary Ciliary Dyskinesia Centre, NIHR Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Academic Unit of Clinical and Experimental Medicine, University of Southampton Faculty of Medicine, Southampton, UK.
Primary Ciliary Dyskinesia Centre, Paediatric Respiratory Medicine, Royal Brompton Hospital, London UK; Division of Molecular and Clinical Medicine, Scottish Centre for Respiratory Research, University of Dundee, Dundee, UK.
Chest. 2019 May;155(5):1008-1017. doi: 10.1016/j.chest.2019.01.036. Epub 2019 Feb 28.
Diagnosis of primary ciliary dyskinesia (PCD) relies on a combination of tests. High-speed video microscopy analysis (HSVA) is widely used to contribute to the diagnosis. It can be analyzed on the day of diagnostic consultation, but the qualitative analyses are subjective. Diagnostic accuracy and reliability of assessing ciliary function have not been robustly evaluated. We aimed to establish the accuracy of HSVA to diagnose PCD compared with a combination of tests, and to assess the interobserver reliability of HSVA analysis.
We randomly selected and anonymized archived videos from 120 patients seen at three UK PCD centers. Three experienced scientists independently reviewed six videos per patient, using a standardized proforma, blinded to diagnostic and clinical data. We compared study outcomes with two references: (1) a combination of diagnostic tests in accordance with the European Respiratory Society PCD diagnostic guidelines and (2) original clinical outcome determined by all available diagnostic tests.
HSVA had excellent sensitivity and specificity to diagnose PCD: (1) 100% and 96%, respectively, compared with ERS guidelines, and (2) 96% and 91% compared with diagnostic outcomes. There was high interobserver agreement for "PCD-positive" outcomes (κ = 0.7).
Specialist scientists accurately diagnosed PCD using HSVA, with high interobserver agreement. HSVA can be reliably used to counsel patients and commence treatment on the day of testing while awaiting confirmatory investigations.
原发性纤毛运动障碍（PCD）的诊断依赖于一系列检查的综合结果。高速视频显微镜分析（HSVA）被广泛用于辅助诊断，可在诊断咨询当天进行分析，但定性分析具有主观性。目前尚未对评估纤毛功能的诊断准确性和可靠性进行全面评估。我们旨在评估 HSVA 与一系列检查联合用于诊断 PCD 的准确性，并评估 HSVA 分析的观察者间可靠性。
我们随机选择了三个英国 PCD 中心的 120 名患者的存档视频，并对其进行了匿名处理。三位经验丰富的科学家使用标准化表格，在不了解诊断和临床数据的情况下，分别独立评估了每位患者的 6 个视频。我们将研究结果与两个参考标准进行了比较：（1）符合欧洲呼吸学会（ERS）PCD 诊断指南的一系列诊断性检查；（2）所有可用诊断性检查确定的原始临床结果。
HSVA 对诊断 PCD 具有极好的敏感性和特异性：（1）与 ERS 指南相比，敏感性和特异性分别为 100%和 96%；（2）与诊断结果相比，敏感性和特异性分别为 96%和 91%。“PCD 阳性”结果的观察者间一致性较高（κ=0.7）。
专家科学家使用 HSVA 可准确诊断 PCD，且观察者间具有高度一致性。HSVA 可在等待确认性检查的同时，用于当天测试时向患者提供咨询并开始治疗。
