A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center
Loretta Müller,
Sibel T. Savas,
Stefan A. Tschanz,
Andrea Stokes,
Anaïs Escher,
Mirjam Nussbaumer,
Marina Bullo,
Claudia E. Kuehni,
Sylvain Blanchon,
Andreas Jung,
Nicolas Regamey,
Beat Haenni,
Martin Schneiter,
Jonas Ingold,
Elisabeth Kieninger,
Carmen Casaulta,
Philipp Latzin,
on behalf of the Swiss PCD Research Group
Affiliations
Loretta Müller
Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
Sibel T. Savas
Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
Stefan A. Tschanz
Institute of Anatomy, University of Bern, 3012 Bern, Switzerland
Andrea Stokes
Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
Anaïs Escher
Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
Mirjam Nussbaumer
Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
Marina Bullo
Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
Claudia E. Kuehni
Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
Sylvain Blanchon
Pediatric Pulmonology and Cystic Fibrosis Unit, Service of Pediatrics, Department Woman–Mother–Child, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland
Andreas Jung
Division of Respiratory Medicine, University Children’s Hospital Zurich, 8032 Zurich, Switzerland
Nicolas Regamey
Division of Paediatric Pulmonology, Children’s Hospital Lucerne, 6000 Lucerne, Switzerland
Beat Haenni
Institute of Anatomy, University of Bern, 3012 Bern, Switzerland
Martin Schneiter
Institute of Anatomy, University of Bern, 3012 Bern, Switzerland
Jonas Ingold
Institute of Anatomy, University of Bern, 3012 Bern, Switzerland
Elisabeth Kieninger
Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
Carmen Casaulta
Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
Philipp Latzin
Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland
Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by dyskinetic cilia. Respiratory symptoms usually start at birth. The lack of diagnostic gold standard tests is challenging, as PCD diagnostics requires different methods with high expertise. We founded PCD-UNIBE as the first comprehensive PCD diagnostic center in Switzerland. Our diagnostic approach includes nasal brushing and cell culture with analysis of ciliary motility via high-speed-videomicroscopy (HSVM) and immunofluorescence labeling (IF) of structural proteins. Selected patients undergo electron microscopy (TEM) of ciliary ultrastructure and genetics. We report here on the first 100 patients assessed by PCD-UNIBE. All patients received HSVM fresh, IF, and cell culture (success rate of 90%). We repeated the HSVM with cell cultures and conducted TEM in 30 patients and genetics in 31 patients. Results from cell cultures were much clearer compared to fresh samples. For 80 patients, we found no evidence of PCD, 17 were diagnosed with PCD, two remained inconclusive, and one case is ongoing. HSVM was diagnostic in 12, IF in 14, TEM in five and genetics in 11 cases. None of the methods was able to diagnose all 17 PCD cases, highlighting that a comprehensive approach is essential for an accurate diagnosis of PCD.
