Nussbaumer Mirjam, Kieninger Elisabeth, Tschanz Stefan A, Savas Sibel T, Casaulta Carmen, Goutaki Myrofora, Blanchon Sylvain, Jung Andreas, Regamey Nicolas, Kuehni Claudia E, Latzin Philipp, Müller Loretta
Division of Paediatric Respiratory Medicine and Allergology, Dept of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
Dept of BioMedical Research (DBMR), University of Bern, Bern, Switzerland.
ERJ Open Res. 2021 Nov 1;7(4). doi: 10.1183/23120541.00353-2021. eCollection 2021 Oct.
Diagnosis of primary ciliary dyskinesia (PCD) is challenging since there is no gold standard test. The European Respiratory (ERS) and American Thoracic (ATS) Societies developed evidence-based diagnostic guidelines with considerable differences.
We aimed to compare the algorithms published by the ERS and the ATS with each other and with our own PCD-UNIBE algorithm in a clinical setting. Our algorithm is similar to the ERS algorithm with additional immunofluorescence staining. Agreement (Cohen's κ) and concordance between the three algorithms were assessed in patients with suspicion of PCD referred to our diagnostic centre.
In 46 out of 54 patients (85%) the final diagnosis was concordant between all three algorithms (30 PCD negative, 16 PCD positive). In eight patients (15%) PCD diagnosis differed between the algorithms. Five patients (9%) were diagnosed as PCD only by the ATS, one (2%) only by the ERS and PCD-UNIBE, one (2%) only by the ATS and PCD-UNIBE, and one (2%) only by the PCD-UNIBE algorithm. Agreement was substantial between the ERS and the ATS (κ=0.72, 95% CI 0.53-0.92) and the ATS and the PCD-UNIBE (κ=0.73, 95% CI 0.53-0.92) and almost perfect between the ERS and the PCD-UNIBE algorithms (κ=0.92, 95% CI 0.80-1.00).
The different diagnostic algorithms lead to a contradictory diagnosis in a considerable proportion of patients. Thus, an updated, internationally harmonised and standardised PCD diagnostic algorithm is needed to improve diagnostics for these discordant cases.
由于缺乏金标准检测方法，原发性纤毛运动障碍（PCD）的诊断具有挑战性。欧洲呼吸学会（ERS）和美国胸科学会（ATS）制定了基于证据的诊断指南，但存在相当大的差异。
我们旨在比较ERS和ATS发布的算法以及我们自己的PCD-UNIBE算法在临床环境中的表现。我们的算法与ERS算法相似，但增加了免疫荧光染色。在转诊至我们诊断中心的疑似PCD患者中，评估了这三种算法之间的一致性（Cohen's κ）和一致性。
54例患者中有46例（85%）的最终诊断在所有三种算法之间是一致的（30例PCD阴性，16例PCD阳性）。8例患者（15%）的PCD诊断在算法之间存在差异。5例患者（9%）仅被ATS诊断为PCD，1例（2%）仅被ERS和PCD-UNIBE诊断为PCD，1例（2%）仅被ATS和PCD-UNIBE诊断为PCD，1例（2%）仅被PCD-UNIBE算法诊断为PCD。ERS和ATS之间的一致性较高（κ=0.72，95%CI 0.53-0.92），ATS和PCD-UNIBE之间的一致性较高（κ=0.73，95%CI 0.53-0.92），ERS和PCD-UNIBE算法之间的一致性几乎完美（κ=0.92，95%CI 0.80-1.00）。
不同的诊断算法在相当一部分患者中导致了相互矛盾的诊断。因此，需要一种更新的、国际协调和标准化的PCD诊断算法来改善这些不一致病例的诊断。
