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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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.
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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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