原发性纤毛运动障碍一例并文献复习

目的:报道1例原发性纤毛运动障碍(primary ciliary dyskinesia,PCD)患者的临床和病理资料,总结其临床特征和诊治要点。方法:对1例可疑原发性纤毛运动障碍患者进行病史采集、体格检查、胸部X线和CT、肺功能检查、支气管镜检查及支气管黏膜活检、电镜超微病理观察、染色体检查等相关检查,确诊为原发性纤毛运动障碍。结合该例患者诊治过程进行文献分析,明确原发性纤毛运动障碍的诊治要点及注意事项。结果:该例患者具有咳嗽、喘息等呼吸道症状,胸部X线及CT提示肺部感染及脏器全反位;肺功能提示基本正常且支气管激发试验为阴性;支气管镜检查示支气管反位及支气管炎症,取黏膜活检提示支气管黏膜慢性炎症改变;超微病理发现气道上皮细胞呈现形态扁平化、纤毛极性消失、细胞内纤毛,纤毛动力臂结构未见异常;染色体检查:46,XX,400-550条带阶段未见染色体异常;确诊为原发性纤毛运动障碍。结论:原发性纤毛运动障碍临床少见且复杂多样,容易漏诊和误诊。临床症状、胸部影像学、纤毛超微结构观察以及基因检测等相关检查联合应用有助于原发性纤毛运动障碍的临床诊断和治疗。对于呼吸道感染迁延不愈并发内脏反位者,无论有无鼻窦炎和支气管扩张,均应考虑原发性纤毛运动障碍存在可能,应当及时进行呼吸道黏膜超微病理学检查,以便尽早进行诊断和干预,减少和延缓并发症的发生。

Primary Ciliary Dyskinesia: a Case Report and Literature Review

ABSTRACT Objective: To report the clinical and pathological data of one case of primary ciliary dyskinesia (PCD), analyze and summarize the clinical characteristics and key points for the diagnosis and treatment of PCD. Methods: History collection, physical exam- ination, chest X-ray and CT, pulmonary function tests, bronchoscopy and bronchial mucosal biopsy, ultrastructural observation of elec- tron microscopy, chromosome inspection were performed to diagnose one suspected PCD patient. The key points and announcements for diagnosing PCD were more clearly via analyzing the process of diagnosis and treatment of patient and related literature. Results: Firstly, The patient had cough and wheezing. Lung infection and viscera trans were detected by chest X-ray and CT. Secondly, lung function was normal and bronchial provocation test was negative. Bronchial trans and bronchial inflammation was observed by bronchoscopy while bronchial mucosal chronic inflammation change was found by bronchial mucosal biopsy. Moreover, we can see epithelial cells formed fat, cilium polarity was disappeared, cilium was inside cells, but the arm structure of cilium power was no exception through the ultra- structural observation of electron microscopy. Checking of Chromosome, 46, XX, 400-550 band stage, was suggested regularly. Ac- cording to the detection results described above, the patient could be diagnosed with PCD. Conclusion: PCD, a rare and complicated kind of disease, is easily misdiagnosed. The combined applications of clinical symptoms, chest radiographic, cilium ultrastructural obser- vation of electron microscopy and genetic test were contributed to diagnosis and treatment of PCD. To avoid missing diagnosis, the de- tection of ultrastructural pathology in airway tract is very necessary for the patients who suffered form recurrent infections combined with situs inversus.