Papel de la inmunofluorescencia y el diagnóstico molecular en la caracterización de la discinesia ciliar primaria

Baz-Redón, Noelia; Rovira‐Amigo, Sandra; Camats-Tarruella, Núria; Fernández‐Cancio, Mónica; Garrido-Pontnou, Marta; Antolı́n, Maria; Reula, Ana; Armengot-Carceller, Miguel; Carrascosa, Antonio; Moreno‐Galdó, Antonio

doi:10.1016/j.arbres.2019.01.021

Cited by 5 publications

(3 citation statements)

References 15 publications

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“…DNAH5 absence in ciliary axoneme correlated with immotile cilia by HSVM and variants in genes related to ODA defects concurring with other studies: DNAH5 [17,18], DNAI2 [19], TTC25 [20] and CCDC151 [21] (Table 2 and Table S1). Moreover, we found proximal axonemal DNAH5 IF staining in three unrelated patients (Figure 2d) with mild clinical symptoms and subtle HSVM defects (mainly stiff and disorganized ciliary beat).…”

Section: Discussionsupporting

confidence: 90%

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

Baz-Redón

Rovira‐Amigo

Fernández‐Cancio

et al. 2020

JCM

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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.

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Section: Discussionsupporting

confidence: 90%

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

Baz-Redón

Rovira‐Amigo

Fernández‐Cancio

et al. 2020

JCM

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“…At present, there is no “gold standard” technique for the diagnosis of PCD [ 2 ], and a combination of different tests is required: analysis of the ciliary beat pattern (CBP) and ciliary beat frequency (CBF) [ 3 ] by high-speed video microscopy (HSVM) [ 4 , 5 ], the study of ciliary ultrastructure by transmission electron microscopy (TEM) [ 6 ], and genetic diagnosis [ 7 ]. In addition, nasal nitric oxide (nNO) determination is sometimes used as a screening test [ 8 ], and immunofluorescent labeling of specific proteins of the ciliary structure is emerging as another potential test that still needs to be validated [ 9 ]. Although TEM and genetics are two definitive diagnostic tests, 20–30% of cases of PCD show [ 9 ] normal ciliary ultrastructure.…”

Section: Introductionmentioning

confidence: 99%

“…In addition, nasal nitric oxide (nNO) determination is sometimes used as a screening test [ 8 ], and immunofluorescent labeling of specific proteins of the ciliary structure is emerging as another potential test that still needs to be validated [ 9 ]. Although TEM and genetics are two definitive diagnostic tests, 20–30% of cases of PCD show [ 9 ] normal ciliary ultrastructure. PCD is a multigenic disorder, as evidenced by the identification of more than 40 genes related with the diseases; these, however, are only present in 60–70% of the studied families.…”

Section: Introductionmentioning

confidence: 99%

High-Speed Video Microscopy for Primary Ciliary Dyskinesia Diagnosis: A Study of Ciliary Motility Variations with Time and Temperature

et al. 2021

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Primary ciliary dyskinesia (PCD) is a rare disease resulting from a defect in ciliary function that generates, among other issues, chronic upper and lower respiratory tract infections. European guidelines recommend studying ciliary function (pattern (CBP) and frequency (CBF)), together with characteristic clinical symptoms, as one of the definitive tests. However, there is no “gold standard”. The present study aims to use high-speed video microscopy to describe how CBF and CBP alter over time and at different temperatures to reduce the error rate in the diagnosis of PCD. Samples of nasal epithelium from 27 healthy volunteers were studied to assess CBF and CBP at 0, 3, 24, 48, and 72 h, at room temperature and 4 °C. It was observed that CBF increased while CBP became dyskinetic, both at room temperature and at 4 °C, as time passed, especially after 3 h. In order to preserve all ciliary function parameters and to perform a reliable analysis to improve the diagnostic process of PCD, analysis should be performed within the first 3 h of sample collection, preferably in reference centers.

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Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia

Baz-Redón

Rovira‐Amigo

Castillo‐Corullón

et al. 2021

Archivos de Bronconeumología (English Edition)

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Papel de la inmunofluorescencia y el diagnóstico molecular en la caracterización de la discinesia ciliar primaria

Cited by 5 publications

References 15 publications

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

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

High-Speed Video Microscopy for Primary Ciliary Dyskinesia Diagnosis: A Study of Ciliary Motility Variations with Time and Temperature

Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia

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