RT Journal Article SR Electronic T1 Diagnosis of Primary Ciliary Dyskinesia: Discrepancy according to different algorithms JF ERJ Open Research JO erjor FD European Respiratory Society SP 00353-2021 DO 10.1183/23120541.00353-2021 A1 Nussbaumer, Mirjam A1 Kieninger, Elisabeth A1 Tschanz, Stefan A. A1 Savas, Sibel T A1 Casaulta, Carmen A1 Goutaki, Myrofora A1 Blanchon, Sylvain A1 Jung, Andreas A1 Regamey, Nicolas A1 Kuehni, Claudia E A1 Latzin, Philipp A1 Müller, Loretta A1 Blanchon, Sylvain A1 Blouin, Jean-Louis A1 Bullo, Marina A1 Casaulta, Carmen A1 Goutaki, Myrofora A1 Gürtler, Nicolas A1 Hector, Andreas A1 Hitzler, Michael A1 Jung, Andreas A1 Junker, Lilian A1 Kieninger, Elisabeth A1 Kuehni, Claudia E A1 Lam, Yin Ting A1 Latzin, Philipp A1 Lin, Dagmar A1 Müller, Loretta A1 Pedersen, Eva A1 Regamey, Nicolas A1 Rochat, Isabelle A1 Schilter, Daniel A1 Schmid, Iris A1 Schwizer, Bernhard A1 Stokes, Andrea A1 Tachsel, Daniel A1 Tschanz, Stefan A. A1 Wildhaber, Johannes A1 , YR 2021 UL http://openres.ersjournals.com/content/early/2021/07/29/23120541.00353-2021.abstract AB 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 kappa) 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% Confidence Interval (CI) 0.53–0.92) and the ATS and the PCD-UNIBE (κ=0.73, CI 0.53–0.92) and almost perfect between the ERS and the PCD-UNIBE algorithms (κ=0.92, 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 harmonized and standardised PCD diagnostic algorithm is needed to improve diagnostics for these discordant cases.FootnotesThis manuscript has recently been accepted for publication in the ERJ Open Research. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJOR online. Please open or download the PDF to view this article.Conflict of interest: M. Nussbaumer has nothing to disclose.Conflict of interest: Dr. Kieninger has nothing to disclose.Conflict of interest: Dr. Tschanz has nothing to disclose.Conflict of interest: Dr. Savas has nothing to disclose.Conflict of interest: Dr. Casaulta has nothing to disclose.Conflict of interest: Dr. Goutaki has nothing to disclose.Conflict of interest: Dr. Blanchon has nothing to disclose.Conflict of interest: Dr. Jung has nothing to disclose.Conflict of interest: Dr. Regamey has nothing to disclose.Conflict of interest: Dr. Goutaki has nothing to disclose.Conflict of interest: Dr. Latzin reports grants and personal fees from Vertex, grants and personal fees from Vifor, personal fees from OM Pharma, personal fees from Polyphor, personal fees from Santhera (DMC), outside the submitted work; .Conflict of interest: Dr. Müller has nothing to disclose.