TY - JOUR T1 - Diagnosis of primary ciliary dyskinesia: discrepancy according to different algorithms JF - ERJ Open Research JO - erjor DO - 10.1183/23120541.00353-2021 VL - 7 IS - 4 SP - 00353-2021 AU - Mirjam Nussbaumer AU - Elisabeth Kieninger AU - Stefan A. Tschanz AU - Sibel T. Savas AU - Carmen Casaulta AU - Myrofora Goutaki AU - Sylvain Blanchon AU - Andreas Jung AU - Nicolas Regamey AU - Claudia E. Kuehni AU - Philipp Latzin AU - Loretta Müller A2 - , Y1 - 2021/10/01 UR - http://openres.ersjournals.com/content/7/4/00353-2021.abstract N2 - Background 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.Objective 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.Results 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).Conclusion 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.There is no gold standard test for diagnosing PCD. The use of existing diagnostic algorithms leads to contradicting results in many patients (15% in this study). Thus, an updated and internationally harmonised diagnostic guideline is needed. https://bit.ly/2U19Vvq ER -