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A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center
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 c...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466881/ https://www.ncbi.nlm.nih.gov/pubmed/34573882 http://dx.doi.org/10.3390/diagnostics11091540 |
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author | 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 |
author_facet | 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 |
author_sort | Müller, Loretta |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8466881 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-84668812021-09-27 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 Diagnostics (Basel) Article 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. MDPI 2021-08-25 /pmc/articles/PMC8466881/ /pubmed/34573882 http://dx.doi.org/10.3390/diagnostics11091540 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article 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 A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center |
title | A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center |
title_full | A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center |
title_fullStr | A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center |
title_full_unstemmed | A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center |
title_short | A Comprehensive Approach for the Diagnosis of Primary Ciliary Dyskinesia—Experiences from the First 100 Patients of the PCD-UNIBE Diagnostic Center |
title_sort | comprehensive approach for the diagnosis of primary ciliary dyskinesia—experiences from the first 100 patients of the pcd-unibe diagnostic center |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466881/ https://www.ncbi.nlm.nih.gov/pubmed/34573882 http://dx.doi.org/10.3390/diagnostics11091540 |
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