ORIGINAL RESEARCH article
Front. Pharmacol.
Sec. Respiratory Pharmacology
Volume 16 - 2025 | 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
Provisionally accepted
Xiaoning Zhang1
Xiuhong Jin1
Zhiying Zhang1
Yanqiong Wang1
Xiangfeng Zhang1
Zhen Dong1
Haiming Yang2
Yuelin Shen2*- 1Henan Children’s hospital, Zhengzhou Children’s Hospital, Children’s Hospital Affiliated to Zhengzhou University, Zhengzhou, Henan Province, China
- 2National Clinical Research Center for Respiratory Diseases, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China
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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 sequencingwas 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 computedtomography 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 responsiable for PCD was DNAH5.
Keywords: primary ciliary dyskinesia, Central China, Clinical feature, Genotype, Children
Received: 12 Nov 2024; Accepted: 13 May 2025.
Copyright: © 2025 Zhang, Jin, Zhang, Wang, Zhang, Dong, Yang and Shen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Yuelin Shen, National Clinical Research Center for Respiratory Diseases, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China
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