A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center

Müller, Loretta; Savas, Sibel T.; Tschanz, Stefan A.; Stokes, Andrea; Escher, Anaïs; Nussbaumer, Mirjam; Bullo, Marina; Kuehni, Claudia E.; Blanchon, Sylvain; Jung, Andreas; Regamey, Nicolas; Haenni, Beat; Schneiter, Martin; Ingold, Jonas; Kieninger, Elisabeth; Casaulta, Carmen; Latzin, Philipp (2021). A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center. Diagnostics, 11(9), p. 1540. MDPI 10.3390/diagnostics11091540

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Pneumologie (Pädiatrie)
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Anatomy
08 Faculty of Science > Institute of Applied Physics
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Social and Preventive Medicine (ISPM)
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Paediatric Pneumology

UniBE Contributor:

Müller, Loretta Lina; Tschanz, Stefan A.; Stokes-Luginbühl, Andrea; Escher, Anaïs Estelle; Nussbaumer, Mirjam; Bullo, Marina; Kühni, Claudia; Haenni, Beat; Schneiter, Martin Michael; Kieninger, Elisabeth; Casaulta, Carmen and Latzin, Philipp

Subjects:

600 Technology > 610 Medicine & health
600 Technology > 620 Engineering
300 Social sciences, sociology & anthropology > 360 Social problems & social services

ISSN:

2075-4418

Publisher:

MDPI

Language:

English

Submitter:

Anette van Dorland

Date Deposited:

30 Aug 2021 18:56

Last Modified:

07 Sep 2021 08:02

Publisher DOI:

10.3390/diagnostics11091540

BORIS DOI:

10.48350/159062

URI:

https://boris.unibe.ch/id/eprint/159062

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