Immunofluorescence analysis as a diagnostic tool in a spanish cohort of patients with suspected primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a techniq...

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Autores: Baz-Redón, Noelia, Caballero-Rabasco, María Araceli, Moreno-Galdó, Antonio
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Recursos:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/48672
Acesso em linha:http://hdl.handle.net/10230/48672
http://dx.doi.org/10.3390/jcm9113603
Access Level:acceso abierto
Palavra-chave:PCD
Antibody
Cilia
Immunofluorescence
Primary ciliary dyskinesia
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spelling Immunofluorescence analysis as a diagnostic tool in a spanish cohort of patients with suspected primary ciliary dyskinesiaBaz-Redón, NoeliaCaballero-Rabasco, María AraceliMoreno-Galdó, AntonioPCDAntibodyCiliaImmunofluorescencePrimary ciliary dyskinesiaPrimary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis. The panel was tested in nasal brushing samples of 74 patients with clinical suspicion of PCD. Sixty-eight (91.9%) patients were evaluable for all tested antibodies. Thirty-three cases (44.6%) presented an absence or mislocation of protein in the ciliary axoneme (15 absent and 3 proximal distribution of DNAH5 in the ciliary axoneme, 3 absent DNAH5 and DNALI1, 7 absent DNALI1 and cytoplasmatic localization of GAS8, 1 absent GAS8, 3 absent RSPH9 and 1 absent RSPH4A). Fifteen patients had confirmed or highly likely PCD but normal immunofluorescence results (68.8% sensitivity and 100% specificity). In conclusion, immunofluorescence analysis is a quick, available, low-cost and reliable diagnostic test for PCD, although it cannot be used as a standalone test.MDPI202120212020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/48672http://dx.doi.org/10.3390/jcm9113603reponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésCopyright © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/486722026-06-12T07:21:37Z
dc.title.none.fl_str_mv Immunofluorescence analysis as a diagnostic tool in a spanish cohort of patients with suspected primary ciliary dyskinesia
title Immunofluorescence analysis as a diagnostic tool in a spanish cohort of patients with suspected primary ciliary dyskinesia
spellingShingle Immunofluorescence analysis as a diagnostic tool in a spanish cohort of patients with suspected primary ciliary dyskinesia
Baz-Redón, Noelia
PCD
Antibody
Cilia
Immunofluorescence
Primary ciliary dyskinesia
title_short Immunofluorescence analysis as a diagnostic tool in a spanish cohort of patients with suspected primary ciliary dyskinesia
title_full Immunofluorescence analysis as a diagnostic tool in a spanish cohort of patients with suspected primary ciliary dyskinesia
title_fullStr Immunofluorescence analysis as a diagnostic tool in a spanish cohort of patients with suspected primary ciliary dyskinesia
title_full_unstemmed Immunofluorescence analysis as a diagnostic tool in a spanish cohort of patients with suspected primary ciliary dyskinesia
title_sort Immunofluorescence analysis as a diagnostic tool in a spanish cohort of patients with suspected primary ciliary dyskinesia
dc.creator.none.fl_str_mv Baz-Redón, Noelia
Caballero-Rabasco, María Araceli
Moreno-Galdó, Antonio
author Baz-Redón, Noelia
author_facet Baz-Redón, Noelia
Caballero-Rabasco, María Araceli
Moreno-Galdó, Antonio
author_role author
author2 Caballero-Rabasco, María Araceli
Moreno-Galdó, Antonio
author2_role author
author
dc.subject.none.fl_str_mv PCD
Antibody
Cilia
Immunofluorescence
Primary ciliary dyskinesia
topic PCD
Antibody
Cilia
Immunofluorescence
Primary ciliary dyskinesia
description Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis. The panel was tested in nasal brushing samples of 74 patients with clinical suspicion of PCD. Sixty-eight (91.9%) patients were evaluable for all tested antibodies. Thirty-three cases (44.6%) presented an absence or mislocation of protein in the ciliary axoneme (15 absent and 3 proximal distribution of DNAH5 in the ciliary axoneme, 3 absent DNAH5 and DNALI1, 7 absent DNALI1 and cytoplasmatic localization of GAS8, 1 absent GAS8, 3 absent RSPH9 and 1 absent RSPH4A). Fifteen patients had confirmed or highly likely PCD but normal immunofluorescence results (68.8% sensitivity and 100% specificity). In conclusion, immunofluorescence analysis is a quick, available, low-cost and reliable diagnostic test for PCD, although it cannot be used as a standalone test.
publishDate 2020
dc.date.none.fl_str_mv 2020
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/48672
http://dx.doi.org/10.3390/jcm9113603
url http://hdl.handle.net/10230/48672
http://dx.doi.org/10.3390/jcm9113603
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Repositorio Digital de la UPF
instname:Universitat Pompeu Fabra
instname_str Universitat Pompeu Fabra
reponame_str Repositorio Digital de la UPF
collection Repositorio Digital de la UPF
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repository.mail.fl_str_mv
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