CAJ | 학술논문

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.
목적 제고대원발성섬모운동장애(PCD)림상여병리특점적인식.방법 분석아원수치적1례PCD환자적림상자료급진치경과,병복습상관문헌.결과 환자림상표현위만성해수、각담、천식;흉부CT표현위쌍폐미만적소결절개변병반국부지기관확장;경섬유지기관경폐활검전경병리표현위섬모결구이상,동역비결실.기표현부합PCD.결론 PCD시유섬모공능화(혹)결구결함도치적일충상염색체은성유전병,용역오진,기진단의뢰우섬모초미결구검측.목전상무표준치료방안,이대증치료위주.
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.