原发性纤毛运动障碍1例及文献复习

目的 提高对原发性纤毛运动障碍(PCD)临床与病理特点的认识.方法 分析我院收治的1例PCD患者的临床资料及诊治经过,并复习相关文献.结果 患者临床表现为慢性咳嗽、咯痰、喘息;胸部CT表现为双肺弥漫的小结节改变并伴局部支气管扩张;经纤维支气管镜肺活检电镜病理表现为纤毛结构异常,动力臂缺失.其表现符合PCD.结论 PCD是由纤毛功能和(或)结构缺陷导致的一种常染色体隐性遗传病,容易误诊,其诊断依赖于纤毛超微结构检测.目前尚无标准治疗方案,以对症治疗为主.

Abstract：

Objective To improve the understanding of clinical and pathological characteristics of primary ciliary dyskinesia (PCD). Methods A case diagnosed with PCD was reported,and the related literatures were reviewed. Results The patient had cough,expectoration,and dyspnea. Chest CT scan showed diffuse nodules and local bronchieclasis. Transbronchial lung biopsy was done and transmission electron microscopy showed ciliary abnormalities and absence of dynein arms. Those findings were consistent with PCD. Conclusions PCD is an inherited disease characterised by functional and/or structural congenital abnormalities of cilia,and is often misdiagnosed. The diagnosis of PCD relies on the analysis of cilium ultrastructure. There is no specific therapy for PCD,and symptomatic treatment is recommended.

Primary ciliary dyskinesia :a case report and review of literature

Objective To improve the understanding of clinical and pathological characteristics of primary ciliary dyskinesia (PCD). Methods A case diagnosed with PCD was reported,and the related literatures were reviewed. Results The patient had cough,expectoration,and dyspnea. Chest CT scan showed diffuse nodules and local bronchieclasis. Transbronchial lung biopsy was done and transmission electron microscopy showed ciliary abnormalities and absence of dynein arms. Those findings were consistent with PCD. Conclusions PCD is an inherited disease characterised by functional and/or structural congenital abnormalities of cilia,and is often misdiagnosed. The diagnosis of PCD relies on the analysis of cilium ultrastructure. There is no specific therapy for PCD,and symptomatic treatment is recommended.