Discinesia ciliar primaria en niños. Rol de la microscopia electrónica en países de medianos recursos económicos

Núñez-Paucar, Héctor; Valera-Moreno, Carlos; Zamudio-Aquise, Mariela K.; Untiveros-Tello, Alex; Torres-Salas, Juan Carlos; Lipa-Chancolla, Roxana; Fuentes-Torres, Julia; Atamari‐Anahui, Noé

doi:10.32641/andespediatr.v93i5.3824

Cited by 2 publications

(1 citation statement)

References 28 publications

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“…The heterogeneous clinical symptoms that combine to give a clinical and diagnostic PCD phenotype, require a multifaceted laboratory approach, given that a single testing modality is unlikely to provide a definitive answer for all cases ( 2 – 4 ). All the relevant diagnostic testing [nasal nitric oxide measurements, high speed video microscopy, genetic testing, transmission electron microscopy (TEM), epithelial air:liquid interface culturing, and immuno-fluorescence microscopy] requires specialised equipment and expertise ( 4 , 5 ), a fact that impacts negatively on the use of comprehensive laboratory testing for PCD diagnoses in countries with overburdened/resource-limited healthcare facilities ( 6 , 7 ). Despite being an upper-middle income country, South Africa has a high Gini coefficient of 0.63, and more than 80% of the population depend on state-funded healthcare facilities ( 8 , 9 ).…”

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confidence: 99%

Ultrastructure for the diagnosis of primary ciliary dyskinesia in South Africa, a resource-limited setting

Birkhead,

Otido,

Mabaso

et al. 2023

Front. Pediatr.

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IntroductionInternational guidelines recommend a multi-faceted approach for successful diagnoses of primary ciliary dyskinesia (PCD). In the absence of a gold standard test, a combination of genetic testing/microscopic analysis of structure and function/nasal nitric oxide measurement is used. In resource-limited settings, often none of the above tests are available, and in South Africa, only transmission electron microscopy (TEM) is available in central anatomical pathology departments. The aim of this study was to describe the clinical and ultrastructural findings of suspected PCD cases managed by pediatric pulmonologists at a tertiary-level state funded hospital in Johannesburg.MethodsNasal brushings were taken from 14 children with chronic respiratory symptoms in keeping with a PCD phenotype. Ultrastructural analysis in accordance with the international consensus guidelines for TEM-PCD diagnostic reporting was undertaken.ResultsTEM observations confirmed 43% (6) of the clinically-suspected cases (hallmark ultrastructural defects in the dynein arms of the outer doublets), whilst 57% (8) required another PCD testing modality to support ultrastructural observations. Of these, 25% (2) had neither ultrastructural defects nor did they present with bronchiectasis. Of the remaining cases, 83% (5) had very few ciliated cells (all of which were sparsely ciliated), together with goblet cell hyperplasia. There was the apparent absence of ciliary rootlets in 17% (1) case.DiscussionIn resource-limited settings in which TEM is the only available testing modality, confirmatory and probable diagnoses of PCD can be made to facilitate early initiation of treatment of children with chronic respiratory symptoms.

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Section: Introductionmentioning

confidence: 99%

Ultrastructure for the diagnosis of primary ciliary dyskinesia in South Africa, a resource-limited setting

Birkhead,

Otido,

Mabaso

et al. 2023

Front. Pediatr.

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Delayed Diagnosis of Primary Ciliary Dyskinesia in Low-Middle-Income Countries: The Clinical Value of Nasal Nitric Oxide

Ortiz-Farìas,

Rodríguez-Guzmán,

Cortes-Telles

et al. 2024

Cureus

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Primary ciliary dyskinesia (PCD) is a rare lung disease that causes chronic oto-sino-pulmonary disease with irreversible lung damage. Several diagnostic methods exist, but electron microscopy (EM) is the most accurate tool, as it visualizes alterations in the axonemal ultrastructure; however, some patients may present a normal ciliary structure. Therefore, other diagnostic methods have been promoted, such as genetic studies or immunofluorescence of specific markers; nonetheless, they are not very accessible and expensive and even present a high level of false negatives. The quantification of nasal nitric oxide (nNO) has been a well-known tool for decades for the screening of this pathology, and recent studies have highlighted its high predictive value in the diagnosis of PCD, as it is a rapid tool in its processing, execution, and accessibility, especially in countries with limited health resources. We present the case of a patient with respiratory symptoms since childhood and extensive lung damage (cystic bronchiectasis); due to lack of access to EM or immunofluorescence, determinations of nNO were performed and found to be compatible with PCD.

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Discinesia ciliar primaria en niños. Rol de la microscopia electrónica en países de medianos recursos económicos

Cited by 2 publications

References 28 publications

Ultrastructure for the diagnosis of primary ciliary dyskinesia in South Africa, a resource-limited setting

Ultrastructure for the diagnosis of primary ciliary dyskinesia in South Africa, a resource-limited setting

Delayed Diagnosis of Primary Ciliary Dyskinesia in Low-Middle-Income Countries: The Clinical Value of Nasal Nitric Oxide

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