Abstract
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.
Footnotes
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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.
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- Received May 26, 2021.
- Accepted July 26, 2021.
- Copyright ©The authors 2021
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