[Report of 24 cases of primary ciliary dyskinesia in children]

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.

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.

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.

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.