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.