Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis

Xiaoning Zhang; Xiuhong Jin; Zhiying Zhang; Yanqiong Wang; Xiangfeng Zhang; Zhen Dong; Haiming Yang; Yuelin Shen

doi:10.3389/fphar.2025.1526675

Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis

Front Pharmacol. 2025 Jun 13:16:1526675. doi: 10.3389/fphar.2025.1526675. eCollection 2025.

Authors

Xiaoning Zhang¹, Xiuhong Jin¹, Zhiying Zhang¹, Yanqiong Wang¹, Xiangfeng Zhang¹, Zhen Dong¹, Haiming Yang^{2

3}, Yuelin Shen²

Affiliations

¹ Respiratory Department, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, China.
² Respiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
³ Department of Respiratory Diseases, Pediatric Research Institute of Xinjang Uygur Autonomous Region, Children's Hospital of Xinjang Uygur Autonomous Region, Xinjiang Hospital of Beijing Children's Hospital, The Seventh People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China.

Abstract

Background: Despite growing awareness of primary ciliary dyskinesia (PCD) in northern China, few cases have been reported in central China, the most populous region in the country. This study aimed to describe the clinical phenotype and genotype of children with PCD in central China.

Methods: We retrospectively recruited 15 patients with PCD from January 2018 to July 2024. The demographic data, clinical characteristics, laboratory and imaging findings were reviewed to clarify the clinical features. Whole exome sequencing was conducted to identify the genotype.

Results: The mean age at diagnosis was 8.2 ± 4.8 years. All 15 patients (100%) experienced recurrent wet cough; 93.3% (14/15) had sinusitis, 80.0% (12/15) had otitis media, and 46.7% (7/15) had neonatal respiratory distress. Chest computed tomography revealed that 93.3% (14/15) had nodular shadows and tree-in-bud signs, and 80.0% (12/15) had varying degrees of bronchiectasis. The most common pathogen in the airway was Haemophilus influenzae (9/15, 60.0%). The genes with the highest incidence of variants were DNAH5 (6/13), followed by DNAH11 (3/13). The DNAAF2, DNAH9, DNAAF6, and DNAAF3 genes each were mutated once. Fifteen novel variants were identified.

Conclusion: PCD is underdiagnosed in central China. The phenotype is characterized by a significant male predominance. Additionally, the incidence of neonatal respiratory distress and situs inversus is notably lower compared to Western countries. The most frequently identified gene responsible for PCD was DNAH5.

Keywords: central China; children; clinical feature; genotype; primary ciliary dyskinesia.