不动纤毛综合征的诊断:附3例分析

Diagnosis of immotile cilia syndrome:Analysis of three cases

为探索一种简便易行的不动纤毛综合征诊断方法 ,对3例反复呼吸道感染患儿进行病因学的诊断。根据患儿病史、症状、体征、特殊检查 (纤维支气管镜取支气管粘膜活组织病理检查和鼻粘膜活组织病理检查 )及文献资料综合分析 ,进行病因学诊断 ,同时比较两种病理资料获取途径的利弊。资料显示 ,3例患儿中有2例支气管粘膜和鼻粘膜均显示了相同结果 ,即患儿呼吸道粘膜的纤毛结构异常 ;1例患儿通过X线摄片、CT、B超等检查 ,证实存在内脏转位、鼻窦炎、支气管扩张三联征。结果3例患儿均确诊为不动纤毛综合征 ,其中1例为Kartagener综合征。提示鼻粘膜活检与支气管粘膜活检结果相同 。

Etiologic diagnosis was undertaken in three children with respiratory tract infection repeatedly based on their histories,symptoms,signs,concerned literatures review,and pathological examination of mucosa taken from bronchus and nose with tracheoscopy.Two sites of mucosa biopsy were also compared.The results showed that there was the abnormal structure of cilia in mucosa of the respiratory tract on two of three cases.Same findings were observed either bronchial or nose mucosa.Another case was diagnosed with situs perversus,nasosinusitis and bronchiectasia that called Kartagener's syndrome confirmed by X-ray,CT and ultrasound examination.It is suggested that mucosa biopsy from nose be feasible for the diagnosis of immotile cilia syndrome.