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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MDPI AG
2020-11-01
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| Series: | Journal of Clinical Medicine |
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| author | Noelia Baz-Redón Sandra Rovira-Amigo Mónica Fernández-Cancio Silvia Castillo-Corullón Maria Cols M. Araceli Caballero-Rabasco Óscar Asensio Carlos Martín de Vicente Maria del Mar Martínez-Colls Alba Torrent-Vernetta Inés de Mir-Messa Silvia Gartner Ignacio Iglesias-Serrano Ana Díez-Izquierdo Eva Polverino Esther Amengual-Pieras Rosanel Amaro-Rodríguez Montserrat Vendrell Marta Mumany María Teresa Pascual-Sánchez Belén Pérez-Dueñas Ana Reula Amparo Escribano Francisco Dasí Miguel Armengot-Carceller Marta Garrido-Pontnou Núria Camats-Tarruella Antonio Moreno-Galdó |
| author_facet | Noelia Baz-Redón Sandra Rovira-Amigo Mónica Fernández-Cancio Silvia Castillo-Corullón Maria Cols M. Araceli Caballero-Rabasco Óscar Asensio Carlos Martín de Vicente Maria del Mar Martínez-Colls Alba Torrent-Vernetta Inés de Mir-Messa Silvia Gartner Ignacio Iglesias-Serrano Ana Díez-Izquierdo Eva Polverino Esther Amengual-Pieras Rosanel Amaro-Rodríguez Montserrat Vendrell Marta Mumany María Teresa Pascual-Sánchez Belén Pérez-Dueñas Ana Reula Amparo Escribano Francisco Dasí Miguel Armengot-Carceller Marta Garrido-Pontnou Núria Camats-Tarruella Antonio Moreno-Galdó |
| author_sort | Noelia Baz-Redón |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T15:00:13Z |
| format | Article |
| id | doaj.art-d4fb34260b8043478c67cee5c287a436 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-10T15:00:13Z |
| publishDate | 2020-11-01 |
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| series | Journal of Clinical Medicine |
| spelling | doaj.art-d4fb34260b8043478c67cee5c287a4362023-11-20T20:16:16ZengMDPI AGJournal of Clinical Medicine2077-03832020-11-01911360310.3390/jcm9113603Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary DyskinesiaNoelia Baz-Redón0Sandra Rovira-Amigo1Mónica Fernández-Cancio2Silvia Castillo-Corullón3Maria Cols4M. Araceli Caballero-Rabasco5Óscar Asensio6Carlos Martín de Vicente7Maria del Mar Martínez-Colls8Alba Torrent-Vernetta9Inés de Mir-Messa10Silvia Gartner11Ignacio Iglesias-Serrano12Ana Díez-Izquierdo13Eva Polverino14Esther Amengual-Pieras15Rosanel Amaro-Rodríguez16Montserrat Vendrell17Marta Mumany18María Teresa Pascual-Sánchez19Belén Pérez-Dueñas20Ana Reula21Amparo Escribano22Francisco Dasí23Miguel Armengot-Carceller24Marta Garrido-Pontnou25Núria Camats-Tarruella26Antonio Moreno-Galdó27Vall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainVall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainVall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainPediatric Pulmonology Unit, Hospital Clínico Universitario de Valencia, 46010 Valencia, SpainPediatric Pulmonology Department and Cystic Fibrosis Unit, Hospital Sant Joan de Déu, 08950 Barcelona, SpainPediatric Pulmonology Unit, Department of Pediatrics, Hospital del Mar, 08003 Barcelona, SpainPediatric Pulmonology Unit, Hospital Parc Taulí de Sabadell, 08208 Sabadell, SpainPediatric Pulmonology Unit, Hospital Miguel Servet, 50009 Zaragoza, SpainPediatric Pulmonology Unit, Hospital Germans Trias i Pujol, 08916 Badalona, SpainVall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainVall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainVall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainVall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainVall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainVall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainDepartment of Pediatrics, Hospital Universitario Son Llàtzer, 07198 Palma de Mallorca, SpainPneumology Department, Hospital Clínic, 08036 Barcelona, SpainPneumology Department, Hospital Josep Trueta, 17007 Girona, SpainPediatric Pulmonology Unit, Consorci Sanitari de Terrassa, 08191 Terrassa, SpainPediatric Pulmonology Unit, Hospital Universitari Sant Joan de Reus, 43204 Tarragona, SpainVall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainGrupo de Biomedicina Molecular, Celular y Genómica, IIS La Fe, 46026 Valencia, SpainPediatric Pulmonology Unit, Hospital Clínico Universitario de Valencia, 46010 Valencia, SpainDepartment of Paediatrics, Obstetrics and Gynecology, Universitat de Valencia, 46010 Valencia, SpainCIBER of Respiratory Diseases (CIBERES), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, SpainDepartment of Pathology, Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainVall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainVall d’Hebron Institut de Recerca (VHIR), Vall d’Hebron Hospital Universitari, Vall d’Hebron Barcelona Hospital Campus, 08035 Barcelona, SpainPrimary 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.https://www.mdpi.com/2077-0383/9/11/3603ciliaprimary ciliary dyskinesiaPCDimmunofluorescenceantibody |
| spellingShingle | Noelia Baz-Redón Sandra Rovira-Amigo Mónica Fernández-Cancio Silvia Castillo-Corullón Maria Cols M. Araceli Caballero-Rabasco Óscar Asensio Carlos Martín de Vicente Maria del Mar Martínez-Colls Alba Torrent-Vernetta Inés de Mir-Messa Silvia Gartner Ignacio Iglesias-Serrano Ana Díez-Izquierdo Eva Polverino Esther Amengual-Pieras Rosanel Amaro-Rodríguez Montserrat Vendrell Marta Mumany María Teresa Pascual-Sánchez Belén Pérez-Dueñas Ana Reula Amparo Escribano Francisco Dasí Miguel Armengot-Carceller Marta Garrido-Pontnou Núria Camats-Tarruella Antonio Moreno-Galdó Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia Journal of Clinical Medicine cilia primary ciliary dyskinesia PCD immunofluorescence antibody |
| title | 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_short | 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 |
| topic | cilia primary ciliary dyskinesia PCD immunofluorescence antibody |
| url | https://www.mdpi.com/2077-0383/9/11/3603 |
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