原发性不动纤毛综合征四例并文献复习  

Clinical analysis of four cases of primary ciliary dyskinesia and literature review

作　　者：金贝贝[1] 田欣伦[1] 郑姝颖[3] 彭敏[1] 留永健[1] 冯瑞娥[2] 许文兵[1] 赵媛媛[1] 

机构地区：[1]中国医学科学院北京协和医院呼吸内科,100730 [2]中国医学科学院北京协和医院病理科,100730 [3]北京大学附属人民医院电镜室

出　　处：《中华结核和呼吸杂志》2010年第3期197-201,共5页Chinese Journal of Tuberculosis and Respiratory Diseases

摘　　要：目的提高对原发性不动纤毛综合征的认识和诊断水平。方法对2007年1月至2009年8月北京协和医院经电镜证实存在纤毛超微结构异常的4例原发性不动纤毛综合征（PCD）的临床资料进行分析，并进行相关的文献复习。结果4例PCD中男性1例，女性3例；发病年龄0—10岁，确诊年龄15～53岁。临床表现：4例均有咳嗽、咳痰，鼻窦炎、喘息各3例，内脏反位2例，不育和不孕、中耳炎各1例；实验室检查：4例中低氧血症3例，阻塞性通气功能障碍伴有弥散功能减低2例，肺功能正常2例；胸部高分辨率CT示支气管扩张4例，双肺弥漫分布的微结节影3例，肺部斑片状影2例；电镜下可见动力臂缺失4例，纤毛稀少2例，微管排列异常或中央微管移位2例。结论不合并内脏反位的PCD易被漏诊。对幼年发病，胸部影像学表现为弥漫支气管扩张或弥漫树枝出芽征样微结节的患者，需要鉴别PCD。可通过电镜观察纤毛超微结构以明确诊断。Objective To study the clinical characteristics and diagnosis of primary ciliary dyskinesia （PCD）. Methods Four cases diagnosed as PCD by cilia electron microscopy examination from Jan. 2007 to Aug. 2009 in this hospital were retrospectively analyzed, and the related literature was reviewed. Results In the 4 patients, there were 1 male and 3 females. The age at disease onset was 0 - 10 years, and the age at diagnosis was 15 -53 years. The most common symptoms were productive cough （4/ 4）, sinusitis （3/4）, and shortness of breath （3/4）. Other manifestations included situs inversus （2/4）, infertility （1/4）, and tympanitis （1/4）. Hypoxemia was found in 3 cases. Obstructive ventilatory impairment accompanied with diffusion dysfunction was observed in 2 cases, while the pulmonary function tests were normal in the other 2 cases. All 4 cases received chest CT scan, and bronchiectasis was present in all of them. Bilateral diffuse microodules and patchy infiltrates were found in 3 and 2 cases respectively. Electron microscopic examination of the endobronchial biopsy specimen showed lack of dynein arms in 4, lack of muco-cilia in 2, and abnormal arrangement of microtubules in 2 cases. Conclusions The Kartagener syndrome is relatively easy to be diagnosed, because it is characterized by the triad of sinusitis, bronchiectasis and situs inversus. However, PCD without situs inversus often goes unrecognized. PCD should be considered in patients with childhood onset disease, bronchiectasis, centrilobular micronodules or tree-in-bud signs in CT scan. Examination of the ciliary uhrastructure is essential to the confirmation of the diagnosis.

关 键 词：纤毛运动障碍 左右转位 诊断 

分 类 号：R56[医药卫生—呼吸系统]