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

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Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_113A61E2FEAF
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia-Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center.
Journal
Diagnostics
Author(s)
Müller L., Savas S.T., Tschanz S.A., Stokes A., Escher A., Nussbaumer M., Bullo M., Kuehni C.E., Blanchon S., Jung A., Regamey N., Haenni B., Schneiter M., Ingold J., Kieninger E., Casaulta C., Latzin P.
Working group(s)
On Behalf Of The Swiss Pcd Research Group
Contributor(s)
Rochat I..
ISSN
2075-4418 (Print)
ISSN-L
2075-4418
Publication state
Published
Issued date
25/08/2021
Peer-reviewed
Oui
Volume
11
Number
9
Pages
1540
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
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.
Keywords
air-liquid interface cell culture, airways, ciliopathy, high-speed videomicroscopy, immunofluorescence, transmission electron microscopy
Pubmed
Web of science
Open Access
Yes
Create date
04/10/2021 10:08
Last modification date
08/08/2024 6:30
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