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Diagnosis of Primary Ciliary Dyskinesia: Discrepancy according to different algorithms

Mirjam Nussbaumer, Elisabeth Kieninger, Stefan A. Tschanz, Sibel T Savas, Carmen Casaulta, Myrofora Goutaki, Sylvain Blanchon, Andreas Jung, Nicolas Regamey, Claudia E Kuehni, Philipp Latzin, Loretta Müller, Sylvain Blanchon, Jean-Louis Blouin, Marina Bullo, Carmen Casaulta, Myrofora Goutaki, Nicolas Gürtler, Andreas Hector, Michael Hitzler, Andreas Jung, Lilian Junker, Elisabeth Kieninger, Claudia E Kuehni, Yin Ting Lam, Philipp Latzin, Dagmar Lin, Loretta Müller, Eva Pedersen, Nicolas Regamey, Isabelle Rochat, Daniel Schilter, Iris Schmid, Bernhard Schwizer, Andrea Stokes, Daniel Tachsel, Stefan A. Tschanz, Johannes Wildhaber On behalf of the Swiss PCD Research Group
ERJ Open Research 2021; DOI: 10.1183/23120541.00353-2021
Mirjam Nussbaumer
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
2Department of BioMedical Research (DBMR), University of Bern, Switzerland
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Elisabeth Kieninger
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
2Department of BioMedical Research (DBMR), University of Bern, Switzerland
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Stefan A. Tschanz
3Insitute of Anatomy, University of Bern, Switzerland
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  • ORCID record for Stefan A. Tschanz
Sibel T Savas
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
2Department of BioMedical Research (DBMR), University of Bern, Switzerland
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Carmen Casaulta
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
2Department of BioMedical Research (DBMR), University of Bern, Switzerland
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Myrofora Goutaki
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
4Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
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  • ORCID record for Myrofora Goutaki
Sylvain Blanchon
5Department Woman – Mother – Child, Service of Pediatrics, Pediatric Pulmonology and Cystic fibrosis unit, Lausanne University hospital and University of Lausanne, Lausanne, Switzerland
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Andreas Jung
6Division of Respiratory Medicine, University Children's Hospital Zurich, Zurich, Switzerland
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Nicolas Regamey
7Division of Paediatric Pulmonology, Children's Hospital Lucerne, Switzerland
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Claudia E Kuehni
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
4Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
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  • ORCID record for Claudia E Kuehni
Philipp Latzin
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
2Department of BioMedical Research (DBMR), University of Bern, Switzerland
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Loretta Müller
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
2Department of BioMedical Research (DBMR), University of Bern, Switzerland
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Sylvain Blanchon
5Department Woman – Mother – Child, Service of Pediatrics, Pediatric Pulmonology and Cystic fibrosis unit, Lausanne University hospital and University of Lausanne, Lausanne, Switzerland
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Jean-Louis Blouin
8Department of Genetic Medicine and Development, University of Geneva, and Department of Genetic Medicine and Laboratory, University Hospitals of Geneva, Switzerland
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Marina Bullo
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
2Department of BioMedical Research (DBMR), University of Bern, Switzerland
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Carmen Casaulta
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
2Department of BioMedical Research (DBMR), University of Bern, Switzerland
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Myrofora Goutaki
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
4Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
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Nicolas Gürtler
9Pediatric Otorhinolaryngology, Department of Otorhinolaryngology, University Hospital of Basel, Switzerland
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Andreas Hector
6Division of Respiratory Medicine, University Children's Hospital Zurich, Zurich, Switzerland
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Michael Hitzler
7Division of Paediatric Pulmonology, Children's Hospital Lucerne, Switzerland
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Andreas Jung
6Division of Respiratory Medicine, University Children's Hospital Zurich, Zurich, Switzerland
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Lilian Junker
10Pneumology, Hospital Thun, Switzerland
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Elisabeth Kieninger
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
2Department of BioMedical Research (DBMR), University of Bern, Switzerland
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Claudia E Kuehni
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
4Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
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Yin Ting Lam
4Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
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Philipp Latzin
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
2Department of BioMedical Research (DBMR), University of Bern, Switzerland
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Dagmar Lin
11Department of Pulmonary Medicine, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
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Loretta Müller
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
2Department of BioMedical Research (DBMR), University of Bern, Switzerland
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  • For correspondence: Loretta.mueller@insel.ch
Eva Pedersen
4Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
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Nicolas Regamey
7Division of Paediatric Pulmonology, Children's Hospital Lucerne, Switzerland
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Isabelle Rochat
5Department Woman – Mother – Child, Service of Pediatrics, Pediatric Pulmonology and Cystic fibrosis unit, Lausanne University hospital and University of Lausanne, Lausanne, Switzerland
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Daniel Schilter
12Quartier Bleu, Medical Practice for Pneumology at the Hospital Lindenhof, Bern, Switzerland
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Iris Schmid
12Quartier Bleu, Medical Practice for Pneumology at the Hospital Lindenhof, Bern, Switzerland
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Bernhard Schwizer
12Quartier Bleu, Medical Practice for Pneumology at the Hospital Lindenhof, Bern, Switzerland
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Andrea Stokes
1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
2Department of BioMedical Research (DBMR), University of Bern, Switzerland
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Daniel Tachsel
13University Children's Hospital Basel (UKBB), Switzerland
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Stefan A. Tschanz
3Insitute of Anatomy, University of Bern, Switzerland
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Johannes Wildhaber
14Department of Paediatrics, Fribourg Hospital HFR, Faculty of Science and Medicine, University of Fribourg, Switzerland
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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

This 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.

This is a PDF-only article. Please click on the PDF link above to read it.

  • Received May 26, 2021.
  • Accepted July 26, 2021.
  • Copyright ©The authors 2021
http://creativecommons.org/licenses/by-nc/4.0/

This version is distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0. For commercial reproduction rights and permissions contact permissions{at}ersnet.org

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Diagnosis of Primary Ciliary Dyskinesia: Discrepancy according to different algorithms
Mirjam Nussbaumer, Elisabeth Kieninger, Stefan A. Tschanz, Sibel T Savas, Carmen Casaulta, Myrofora Goutaki, Sylvain Blanchon, Andreas Jung, Nicolas Regamey, Claudia E Kuehni, Philipp Latzin, Loretta Müller, Sylvain Blanchon, Jean-Louis Blouin, Marina Bullo, Carmen Casaulta, Myrofora Goutaki, Nicolas Gürtler, Andreas Hector, Michael Hitzler, Andreas Jung, Lilian Junker, Elisabeth Kieninger, Claudia E Kuehni, Yin Ting Lam, Philipp Latzin, Dagmar Lin, Loretta Müller, Eva Pedersen, Nicolas Regamey, Isabelle Rochat, Daniel Schilter, Iris Schmid, Bernhard Schwizer, Andrea Stokes, Daniel Tachsel, Stefan A. Tschanz, Johannes Wildhaber
ERJ Open Research Jan 2021, 00353-2021; DOI: 10.1183/23120541.00353-2021

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Diagnosis of Primary Ciliary Dyskinesia: Discrepancy according to different algorithms
Mirjam Nussbaumer, Elisabeth Kieninger, Stefan A. Tschanz, Sibel T Savas, Carmen Casaulta, Myrofora Goutaki, Sylvain Blanchon, Andreas Jung, Nicolas Regamey, Claudia E Kuehni, Philipp Latzin, Loretta Müller, Sylvain Blanchon, Jean-Louis Blouin, Marina Bullo, Carmen Casaulta, Myrofora Goutaki, Nicolas Gürtler, Andreas Hector, Michael Hitzler, Andreas Jung, Lilian Junker, Elisabeth Kieninger, Claudia E Kuehni, Yin Ting Lam, Philipp Latzin, Dagmar Lin, Loretta Müller, Eva Pedersen, Nicolas Regamey, Isabelle Rochat, Daniel Schilter, Iris Schmid, Bernhard Schwizer, Andrea Stokes, Daniel Tachsel, Stefan A. Tschanz, Johannes Wildhaber
ERJ Open Research Jan 2021, 00353-2021; DOI: 10.1183/23120541.00353-2021
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