Birkhead Monica, Otido Samuel, Mabaso Theodore, Mopeli Keketso, Tlhapi Dorcas, Verwey Charl, Dangor Ziyaad
Centre for Emerging Zoonotic and Parasitic Diseases, National Institute for Communicable Diseases - a Division of the National Health Laboratory Service, Johannesburg, South Africa.
Department of Paediatrics and Child Health, Aga Khan University Hospital, Nairobi, Kenya.
Front Pediatr. 2023 Aug 14;11:1247638. doi: 10.3389/fped.2023.1247638. eCollection 2023.
International 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.
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.
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.
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.
国际指南推荐采用多方面方法来成功诊断原发性纤毛运动障碍（PCD）。在缺乏金标准检测方法的情况下，采用基因检测/结构与功能显微镜分析/鼻一氧化氮测量相结合的方法。在资源有限的环境中，上述检测通常都无法进行，而在南非，只有中央解剖病理科能进行透射电子显微镜检查（TEM）。本研究的目的是描述在约翰内斯堡一家由国家资助的三级医院中，由儿科肺病专家管理的疑似PCD病例的临床和超微结构特征。
从14名有符合PCD表型的慢性呼吸道症状的儿童中采集鼻拭子。按照TEM-PCD诊断报告的国际共识指南进行超微结构分析。
TEM观察证实43%（6例）临床疑似病例（外双联微管动力蛋白臂存在标志性超微结构缺陷），而57%（8例）需要另一种PCD检测方法来支持超微结构观察结果。其中，25%（2例）既没有超微结构缺陷，也没有支气管扩张表现。在其余病例中，83%（5例）的纤毛细胞极少（均为稀疏纤毛），同时伴有杯状细胞增生。17%（1例）病例明显没有纤毛小根。
在TEM是唯一可用检测方法的资源有限环境中，可以做出PCD的确诊和疑似诊断，以便尽早开始治疗有慢性呼吸道症状的儿童。
