目的 探讨原发性纤毛运动障碍（primary ciliary dyskinesia, PCD）患儿的临床特点及治疗措施，提高儿科医师对该病的早期认识，减少误诊及漏诊。 方法 回顾性分析2014年1月—2025年12月湖南省人民医院儿童医学中心收治的24例PCD患儿的临床资料。 结果 24例患儿中，男12例，女12例；年龄2月龄至15岁，中位发病年龄为6个月，中位诊断年龄为98个月。所有患儿均表现为反复呼吸道感染、慢性湿咳；慢性鼻窦炎21例，新生儿肺炎9例，内脏反位3例。感染细菌以流感嗜血杆菌和肺炎链球菌检出率最高。存在支气管扩张16例，肺不张10例，19例可见支气管管腔呈鱼骨刺样改变；21例患儿完成鼻呼出气一氧化氮检查，其值均明显降低（2.4~27 nL/min）。14例患儿进行基因检测，其中12例阳性且均为常染色体隐性遗传，阳性基因有HYDIN、DNAH11、TUBB4B等9种。该类患儿治疗中气道管理及长期小剂量大环内酯类药物是关键。 结论 PCD为罕见的遗传性疾病，发病早，不少患儿在新生儿期或6月龄之前发病。对于存在慢性湿咳，合并慢性鼻窦炎、支气管扩张症、气道分泌物多及内脏反位的患儿，需高度考虑该疾病。

Objective To investigate the clinical features and treatment of children with primary ciliary dyskinesia (PCD), aiming to improve early recognition of the disease among pediatricians and reduce misdiagnosis and missed diagnosis. Methods A retrospective analysis was conducted on the clinical data of 24 children with PCD admitted to the Children's Medical Center of People's Hospital of Hunan Province from January 2014 to December 2025. Results Among the 24 children, there were 12 boys and 12 girls, aged from 2 months to 15 years. The median age of onset was 6 months, and the median age at diagnosis was 98 months. All patients presented with recurrent respiratory tract infections and chronic productive cough; 21 had chronic sinusitis, 9 had neonatal pneumonia, and 3 had visceral inversion. The most frequently detected bacteria were Haemophilus influenzae and Streptococcus pneumoniae. Bronchiectasis was identified in 16 cases, atelectasis in 10 cases, and 19 cases showed fishbone-shaped changes in the bronchial lumen. Nasal nitric oxide testing was performed in 21 children, with all values markedly decreased (2.4-27 nL/min). Fourteen children underwent genetic testing, with 12 testing positive for autosomal recessive mutations involving 9 genes including HYDIN, DNAH11, and TUBB4B. Airway management and long-term low-dose macrolide therapy were key in treatment. Conclusions Primary ciliary dyskinesia is a rare genetic disorder with early onset, often before 6 months of age. Children presenting with chronic productive cough combined with chronic sinusitis, bronchiectasis, abundant airway secretions, and visceral inversion warrant high suspicion for this disease.