原发性纤毛运动障碍八例临床特征及误诊分析

Clinical Features and Misdiagnosis of Primary Ciliary Dyskinesia in 8 Cases

目的总结原发性纤毛运动障碍(primary ciliary dyskinesia,PCD)临床特征及误诊原因。方法回顾分析我科收的8例PCD误诊患儿的临床资料。结果8例因慢性呼吸道感染症状就诊,临床表现为咳嗽、咳痰,部分伴有喘息。在外院反复治疗无明显好转,误诊为儿童迁延性细菌性支气管炎及弥漫性泛支气管炎各3例,支气管哮喘2例。误诊时间6~18个月。入我科后经胸部CT、支气管肺泡灌洗液培养、纤毛活检及基因检测后确诊为PCD。予敏感抗菌药物抗感染、乙酰半胱氨酸雾化吸入等治疗后5例症状缓解,肺功能改善;3例症状缓解,但肺功能无明显改善。结论PCD临床表现为慢性呼吸道感染,非呼吸专业医生对此病缺乏认识,常误漏诊,确诊依赖于纤毛活检及基因检测。

Objective To investigate the clinical features and cause of misdiagnosis of primary ciliary dyskinesia(PCD),in order to improve the knowledge of the disease.Methods The clinical data of 8 children misdiagnosed with PCD admitted to our department were retrospectively analyzed.Results The clinical manifestations of 8 patients with chronic respiratory tract infection were cough and sputum,and some of them were accompanied by wheezing symptoms.All the cases showed no significant improvement after repeated treatment in other hospitals,and were misdiagnosed as prolonged bacterial bronchitis in 3 cases,diffuse panbronchitis in 3 cases and bronchial asthma in 2 cases.The duration of misdiagnosis was 6-18 months.These cases were confirmed as PCD by chest CT,bronchoalveolar gavage fluid culture,ciliary biopsy and gene test after admission to our department.After the treatment with sensitive antibiotics and acetylcysteine atomization inhalation,the symptoms were relieved and lung function was improved in 5 cases.Symptoms were relieved in 3 patients,but pulmonary function was not significantly improved.Conclusion The clinical manifestation of PCD is chronic respiratory infection,but insufficient understanding of this disease by non-respiratory doctors often leads to misdiagnosis and missed diagnosis.The diagnosis of this disease depends on cilia biopsy and gene detection.