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

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• dc.contributor.author Baz-Redón, Noelia
• dc.contributor.author Caballero-Rabasco, María Araceli
• dc.contributor.author Moreno-Galdó, Antonio
• dc.date.accessioned 2021-10-18T06:36:22Z
• dc.date.available 2021-10-18T06:36:22Z
• dc.date.issued 2020
• dc.description.abstract 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.
• dc.format.mimetype application/pdf
• dc.identifier.citation Baz-Redón N, Rovira-Amigo S, Fernández-Cancio M, Castillo-Corullón S, Cols M, Caballero-Rabasco MA, et al. Immunofluorescence analysis as a diagnostic tool in a spanish cohort of patients with suspected primary ciliary dyskinesia. J Clin Med. 2020 Nov 9; 9(11): 3603. DOI: 10.3390/jcm9113603
• dc.identifier.doi http://dx.doi.org/10.3390/jcm9113603
• dc.identifier.issn 2077-0383
• dc.identifier.uri http://hdl.handle.net/10230/48672
• dc.language.iso eng
• dc.publisher MDPI
• dc.rights Copyright © 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/).
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword PCD
• dc.subject.keyword Antibody
• dc.subject.keyword Cilia
• dc.subject.keyword Immunofluorescence
• dc.subject.keyword Primary ciliary dyskinesia
• dc.title Immunofluorescence analysis as a diagnostic tool in a spanish cohort of patients with suspected primary ciliary dyskinesia
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion