TY - JOUR
T1 - Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia
AU - Baz-Redón, Noelia
AU - Rovira-Amigo, Sandra
AU - Fernández-Cancio, Mónica
AU - Castillo-Corullón, Silvia
AU - Cols, Maria
AU - Caballero-Rabasco, M Araceli
AU - Asensio, Óscar
AU - Martín de Vicente, Carlos
AU - Martínez-Colls, Maria Del Mar
AU - Torrent-Vernetta, Alba
AU - de Mir-Messa, Inés
AU - Gartner, Silvia
AU - Iglesias-Serrano, Ignacio
AU - Díez-Izquierdo, Ana
AU - Polverino, Eva
AU - Amengual-Pieras, Esther
AU - Amaro-Rodríguez, Rosanel
AU - Vendrell, Montserrat
AU - Mumany, Marta
AU - Pascual-Sánchez, María Teresa
AU - Pérez-Dueñas, Belén
AU - Reula, Ana
AU - Escribano, Amparo
AU - Dasí, Francisco
AU - Armengot-Carceller, Miguel
AU - Garrido-Pontnou, Marta
AU - Camats-Tarruella, Núria
AU - Moreno-Galdó, Antonio
PY - 2020/11
Y1 - 2020/11
N2 - 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.
AB - 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.
KW - Cilia
KW - primary ciliary dyskinesia
KW - PCD
KW - Immunofluorescence
KW - Antibody
U2 - 10.3390/jcm9113603
DO - 10.3390/jcm9113603
M3 - Article
C2 - 33182294
SN - 2077-0383
VL - 9
JO - Journal of clinical medicine
JF - Journal of clinical medicine
IS - 11
M1 - 3603
ER -