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

doi:10.1183/23120541.00353-2021

Diagnosis of primary ciliary dyskinesia: discrepancy according to different algorithms

ERJ Open Res. 2021 Nov 1;7(4):00353-2021. doi: 10.1183/23120541.00353-2021. eCollection 2021 Oct.

Authors

Mirjam Nussbaumer^{1

2}, Elisabeth Kieninger^{1

2}, Stefan A Tschanz³, Sibel T Savas^{1

2}, Carmen Casaulta^{1

2}, Myrofora Goutaki^{1

4}, Sylvain Blanchon⁵, Andreas Jung⁶, Nicolas Regamey⁷, Claudia E Kuehni^{1

4}, Philipp Latzin^{1

2}, Loretta Müller^{1

2}

Affiliations

¹ Division of Paediatric Respiratory Medicine and Allergology, Dept of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
² Dept of BioMedical Research (DBMR), University of Bern, Bern, Switzerland.
³ Insitute of Anatomy, University of Bern, Bern, Switzerland.
⁴ Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
⁵ Dept Woman-Mother-Child, Service of Pediatrics, Pediatric Pulmonology and Cystic Fibrosis Unit, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
⁶ Division of Respiratory Medicine, University Children's Hospital Zurich, Zurich, Switzerland.
⁷ Division of Paediatric Pulmonology, Children's Hospital Lucerne, Lucerne, Switzerland.

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 κ) 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% CI 0.53-0.92) and the ATS and the PCD-UNIBE (κ=0.73, 95% CI 0.53-0.92) and almost perfect between the ERS and the PCD-UNIBE algorithms (κ=0.92, 95% 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 harmonised and standardised PCD diagnostic algorithm is needed to improve diagnostics for these discordant cases.