Journal
DIAGNOSTICS
Volume 11, Issue 9, Pages -Publisher
MDPI
DOI: 10.3390/diagnostics11091540
Keywords
airways; ciliopathy; air-liquid interface cell culture; high-speed videomicroscopy; immunofluorescence; transmission electron microscopy
Categories
Funding
- Lung League Bern
- German Academic Scholarship Foundation (Studienstiftung des Deutschen Volkes)
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Primary ciliary dyskinesia (PCD) is a rare genetic disease with respiratory symptoms typically starting at birth. Diagnosing PCD requires a comprehensive approach utilizing methods such as HSVM, IF, TEM, and genetics. PCD-UNIBE in Switzerland is the first comprehensive PCD diagnostic center, offering a thorough diagnostic approach for assessing patients with potential PCD.
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.
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