Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia
| Autor: | Baz-Redón, Noelia, Rovira-Amigo, Sandra, Fernández Cancio, Mónica, Castillo-Corullón, Silvia, Cols, Maria, Caballero-Rabasco, M. Araceli, Asensio, Oscar, Martín de Vicente, Carlos, Martínez-Colls, Maria del Mar, Torrent-Vernetta, Alba, de Mir-Messa, Inés, Gartner, Silvia, Iglesias-Serrano, Ignacio, Díez-Izquierdo, Ana, Polverino, Eva, Amengual-Pieras, Esther, Amaro-Rodríguez, Rosanel, Vendrell, Montserrat, Mumany, Marta, Pascual-Sánchez, María Teresa, Pérez-Dueñas, Belén, Reula, Ana, Escribano, Amparo, Dasí, Francisco, Armengot-Carceller, Miguel, Garrido-Pontnou, Marta, Camats Tarruella, Núria, Moreno Galdó, Antonio, Universitat Autònoma de Barcelona |
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| Rok vydání: | 2020 |
| Předmět: |
PCD
antibody cilia immunofluorescence primary ciliary dyskinesia Pathology medicine.medical_specialty Primary Ciliary Dyskinesia Immunofluorescence lcsh:Medicine Immunoglobulins Article Immunofluorescència 03 medical and health sciences 0302 clinical medicine Primary ciliary dyskinesia Ciliary axoneme antibody medicine otorhinolaryngologic diseases Cilia Respiratory system Antibody 030304 developmental biology 0303 health sciences medicine.diagnostic_test biology business.industry Cilium lcsh:R cilia General Medicine medicine.disease PCD 030228 respiratory system Discinesia ciliar primària Cohort biology.protein business Immunoglobulines Rare disease |
| Zdroj: | Journal of Clinical Medicine, 2020, vol. 9, núm. 11, p. 3603 Articles publicats (D-CM) DUGiDocs – Universitat de Girona instname Journal of Clinical Medicine r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA Journal of Clinical Medicine, Vol 9, Iss 3603, p 3603 (2020) Journal of clinical medicine r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe Volume 9 Issue 11 Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol |
| ISSN: | 2077-0383 |
| Popis: | 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. This research was funded by a grant from the Health Research and Development Strategy (AES) of Instituto de Salud Carlos III (ISCIII) (PI16/01233), co-financed by the European Regional Development Fund, Smart Growth Operational Programme 2014-2020, and with grants from the Spanish Society of Pediatric Pulmonology (SENP, 2016) and the Catalan Pneumology Foundation (FUCAP, 2016). N.C.-T. received a grant for a Short Term Scientific Mission from COST Action BM1407. It was also supported by the CIBER of Rare Diseases (CIBERER, ISCIII) U-712 to N.C.-T. and M.F.-C. |
| Databáze: | OpenAIRE |
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