INSERM, U955, France.
Eur Respir J. 2010 May;35(5):1057-63. doi: 10.1183/09031936.00046209. Epub 2009 Oct 19.
Transmission electron microscopy (TEM) analysis of ciliary ultrastructure is classically used for the diagnosis of primary ciliary dyskinesia (PCD). We report our extensive experience of TEM analysis in a large series of patients in order to evaluate its feasibility and results. TEM analysis performed in 1,149 patients with suspected PCD was retrospectively reviewed. Biopsies (1,450) were obtained from nasal (44%) or bronchial (56%) mucosa in children (66.5%) and adults (33.5%). TEM analysis was feasible in 71.4% of patients and showed a main defect suggestive of PCD in 29.9%. TEM was more feasible in adults than in children, regardless of the biopsy site. Main defects suggestive of PCD were found in 76.9% of patients with sinopulmonary symptoms and in only 0.4% of patients with isolated upper and 0.4% with isolated lower respiratory tract infections. The defect pattern was similar in children and adults, involving dynein arms (81.2%) or central complex (CC) (18.8%). Situs inversus was never observed in PCD patients with CC defect. Kartagener syndrome with normal ciliary ultrastructure was not an exceptional condition (10.2% of PCD). In conclusion, TEM analysis is feasible in most patients and is particularly useful for PCD diagnosis in cases of sinopulmonary syndrome of unknown origin.
透射电子显微镜（TEM）分析纤毛超微结构通常用于原发性纤毛运动障碍（PCD）的诊断。我们报告了我们在大量患者中进行 TEM 分析的广泛经验，以评估其可行性和结果。回顾性分析了 1149 例疑似 PCD 患者的 TEM 分析。活检标本（1450 份）取自儿童（66.5%）和成人（33.5%）的鼻（44%）或支气管（56%）黏膜。71.4%的患者可行 TEM 分析，29.9%的患者显示出主要的 PCD 缺陷提示。无论活检部位如何，成人的 TEM 分析都比儿童更可行。有鼻窦肺症状的患者中，76.9%发现有提示 PCD 的主要缺陷，而仅有 0.4%的孤立上呼吸道感染和 0.4%的孤立下呼吸道感染患者有这种缺陷。儿童和成人的缺陷模式相似，涉及动力蛋白臂（81.2%）或中央复合体（CC）（18.8%）。CC 缺陷的 PCD 患者从未观察到 situs inversus。伴有正常纤毛超微结构的 Kartagener 综合征并非罕见情况（10.2%的 PCD）。总之，TEM 分析在大多数患者中是可行的，对于不明原因的鼻窦肺综合征的 PCD 诊断特别有用。
