原发性纤毛运动障碍的临床特征分析

摘要

目的 分析原发性纤毛运动障碍(primary ciliary dyskinesia,PCD)的临床特征,提高PCD的诊断水平.方法 选择10例按照Bush等提出的标准临床诊断为PCD的患者,回顾分析病史、症状、体征、肺CT或胸部X线、鼻窦CT等特点,以及鼻腔一氧化氮(nitric oxide,NO)、鼻黏膜纤毛超微结构、DNAH5和DNAH11基因突变、治疗情况等.结果 10例患者均有自幼反复发生的慢性鼻-鼻窦炎、分泌性中耳炎、支气管炎/支气管扩张等病史,9例伴有心脏及大血管转位患者诊断为Kartagener综合征.婚后长期不孕1例,不育1例.2例患者鼻腔NO显著降低,1例基本正常.4例患者下鼻甲黏膜纤毛透射电镜下超微结构基本正常,无内、外侧动力蛋白臂缺失.2例患者全外显子组基因检测显示DNAH5和DNAH11基因突变,5例患者DNAH5常见的6个外显子片段及DNAH11的sanger测序未见异常.10例PCD患者均接受长期药物治疗,其中5例曾接受功能性内镜鼻窦手术,效果均良好.结论 PCD临床少见,容易漏诊和误诊.临床特征分析、鼻腔NO检测、纤毛超微结构观察、基因检测等有助于PCD的临床诊断.%Objective To analyze the clinical characteristics of primary ciliary dyskinesia(PCD) so as to improve the diagnostic level of this rarely seen disease.Methods Ten patients with PCD were retrospectively reviewed,the medical history,symptoms,signs,lung CT or chest X-ray,rhinosinus CT scan,nasal nitric oxide (NO) levels,nasal ciliary ultrastructure,DNAH5 and DNAH11 genetic mutation,as well as treatment outcome were analyzed.Results All 10 patients had recurrent chronic sinusitis,otitis media,bronchitis/bronchiectasis since childhood.Nine cases with translocation of heart and big vessels were diagnosed as Kartagener syndrome.One woman was suffering from barrenness and one man sterility after marriage for long time without birth control.Nasal NO levels were significantly lower in 2 patients with PCD but it was almost normal in one patient.Ciliary ultrastructure investigated by transmission electron microscope were almost normal in 4 cases without missing of inner or outer dynein arms.Two cases taking exome capture sequencing showed that mutations happened in DNAH5 and DNAH11.Five subjects underwenting sanger sequencing on 6 common exon fragments of DNAH5 and DNAH11 did not show any abnormality.Ten cases took medication therapy,while 5 patients once underwent functional endoscope sinus surgery.All of the 10 patients had improvement of their symptoms and signs after treatment.Conclusions The PCD is so rare in clinic that it is easily misdiagnosed.Clinical characteristics,nasal NO levels,ciliary ultrastructure and genetic testing are significant for clinical diagnosis.