Diagnosis of Primary Ciliary Dyskinesia: Discrepancy according to different algorithms

  1. Mirjam Nussbaumer1,2,
  2. Elisabeth Kieninger1,2,
  3. Stefan A. Tschanz3,
  4. Sibel T Savas1,2,
  5. Carmen Casaulta1,2,
  6. Myrofora Goutaki1,4,
  7. Sylvain Blanchon5,
  8. Andreas Jung6,
  9. Nicolas Regamey7,
  10. Claudia E Kuehni1,4,
  11. Philipp Latzin1,2,
  12. Loretta Müller1,2,
  13. Sylvain Blanchon5,
  14. Jean-Louis Blouin8,
  15. Marina Bullo1,2,
  16. Carmen Casaulta1,2,
  17. Myrofora Goutaki1,4,
  18. Nicolas Gürtler9,
  19. Andreas Hector6,
  20. Michael Hitzler7,
  21. Andreas Jung6,
  22. Lilian Junker10,
  23. Elisabeth Kieninger1,2,
  24. Claudia E Kuehni1,4,
  25. Yin Ting Lam4,
  26. Philipp Latzin1,2,
  27. Dagmar Lin11,
  28. Loretta Müller1,2⇑,
  29. Eva Pedersen4,
  30. Nicolas Regamey7,
  31. Isabelle Rochat5,
  32. Daniel Schilter12,
  33. Iris Schmid12,
  34. Bernhard Schwizer12,
  35. Andrea Stokes1,2,
  36. Daniel Tachsel13,
  37. Stefan A. Tschanz3 and
  38. Johannes Wildhaber14
  39. On behalf of the Swiss PCD Research Group15
  1. 1Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
  2. 2Department of BioMedical Research (DBMR), University of Bern, Switzerland
  3. 3Insitute of Anatomy, University of Bern, Switzerland
  4. 4Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
  5. 5Department Woman – Mother – Child, Service of Pediatrics, Pediatric Pulmonology and Cystic fibrosis unit, Lausanne University hospital and University of Lausanne, Lausanne, Switzerland
  6. 6Division of Respiratory Medicine, University Children's Hospital Zurich, Zurich, Switzerland
  7. 7Division of Paediatric Pulmonology, Children's Hospital Lucerne, Switzerland
  8. 8Department of Genetic Medicine and Development, University of Geneva, and Department of Genetic Medicine and Laboratory, University Hospitals of Geneva, Switzerland
  9. 9Pediatric Otorhinolaryngology, Department of Otorhinolaryngology, University Hospital of Basel, Switzerland
  10. 10Pneumology, Hospital Thun, Switzerland
  11. 11Department of Pulmonary Medicine, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
  12. 12Quartier Bleu, Medical Practice for Pneumology at the Hospital Lindenhof, Bern, Switzerland
  13. 13University Children's Hospital Basel (UKBB), Switzerland
  14. 14Department of Paediatrics, Fribourg Hospital HFR, Faculty of Science and Medicine, University of Fribourg, Switzerland
  15. 15Current Swiss PCD Research Group (alphabetical order):
  1. Loretta Mller (Loretta.mueller{at}insel.ch)

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.
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