Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia

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-SánchezBelén Pérez-Dueñas, Ana Reula, Amparo Escribano, Francisco Dasí, Miguel Armengot-Carceller, Marta Garrido-Pontnou, Núria Camats-Tarruella, Antonio Moreno-Galdó

Research output: Contribution to journalArticleResearchpeer-review

12 Citations (Scopus)

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.

Original languageEnglish
Article number3603
Number of pages14
JournalJournal of clinical medicine
Volume9
Issue number11
DOIs
Publication statusPublished - Nov 2020

Keywords

  • Cilia
  • primary ciliary dyskinesia
  • PCD
  • Immunofluorescence
  • Antibody

Fingerprint

Dive into the research topics of 'Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia'. Together they form a unique fingerprint.

Cite this