https://doi.org/10.1038/s41598-022-06370-w
“Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition often presenting with chronic respiratory infections in early life. Transmission electron microscopy (TEM) is used to detect ciliary ultrastructural defects. In this study, we aimed to assess ciliary ultrastructural defects using quantitative methods on TEM to identify its diagnostic role in confirming PCD. Nasal samples of 67 patients, including 37 females and 30 males (20.3 ± 10.7 years old), with suspected PCD symptoms were examined by TEM. The most common presentations were bronchiectasis: 26 (38.8%), chronic sinusitis: 23 (34.3%), and recurrent lower respiratory infections: 21 (31.3%). Secondary ciliary dyskinesia, including compound cilia (41.4%) and extra-tubules (44.3%), were the most prevalent TEM finding. Twelve patients (17.9%) had hallmark diagnostic criteria for PCD (class 1) consisting of 11 (16.4%) outer and inner dynein arm (ODA and IDA) defects and only one concurrent IDA defect and microtubular disorganization. Also, 11 patients (16.4%) had probable criteria for PCD (class 2), 26 (38.8%) had other defects, and 18 (26.9%) had normal ciliary ultrastructure. Among our suspected PCD patients, the most common ultrastructural ciliary defects were extra-tubules and compound cilia. However, the most prevalent hallmark diagnostic defect confirming PCD was simultaneous defects of IDA and ODA.”
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Table 2 shows the clinical presentations of the cases with a definite diagnosis of PCD and their ciliary ultrastructural defects detected by TEM.
Figure 5 shows some examples of microtubular disorganization and Fig. 6 shows some examples of IDA and ODA defects in our patients.
Microtubular disorganization (arrows) (Original magnification: ×50,000).
IDA and ODA defects. (a) ODA defects (arrows). (b, c, d) Some absence of IDA (I) and ODA (O) are marked. (Original magnification: a, c & d: ×50,000, b: ×140,000).
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