CAJ | 학술논문

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.
목적 제고대원발성불동섬모종합정적인식화진단수평.방법 대2007년1월지2009년8월북경협화의원경전경증실존재섬모초미결구이상적4례원발성불동섬모종합정(PCD)적림상자료진행분석,병진행상관적문헌복습.결과 4례PCD중남성1례,녀성3례;발병년령0～10세,학진년령15～53세.림상표현:4례균유해수、해담,비두염、천식각3례,내장반위2례,불육화불잉、중이염각1례;실험실검사:4례중저양혈증3례,조새성통기공능장애반유미산공능감저2례,폐공능정상2례;흉부고분변솔CT시지기관확장4례,쌍폐미만분포적미결절영3례,폐부반편상영2례;전경하가견동역비결실4례,섬모희소2례,미관배렬이상혹중앙미관이위2례.결론 불합병내장반위적PCD역피루진.대유년발병,흉부영상학표현위미만지기관확장혹미만수지출아정양미결절적환자,수요감별PCD.가통과전경관찰섬모초미결구이명학진단.
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. Resnlts 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 inversns (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 micrenodules 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 inversns. 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 ultrastmcture is essential to the confLrmation of the diagnosis.