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

在资源有限的南非,利用超微结构诊断原发性纤毛运动障碍

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作者:Monica Birkhead, Samuel Otido, Theodore Mabaso, Keketso Mopeli, Dorcas Tlhapi, Charl Verwey, Ziyaad Dangor

Discussion

In 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.

Methods

Nasal 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.

Results

TEM 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.

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