Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis
BackgroundDespite 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.MethodsWe retrospe...
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Pharmacology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fphar.2025.1526675/full |
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| author | Xiaoning Zhang Xiuhong Jin Zhiying Zhang Yanqiong Wang Xiangfeng Zhang Zhen Dong Haiming Yang Haiming Yang Yuelin Shen |
| author_facet | Xiaoning Zhang Xiuhong Jin Zhiying Zhang Yanqiong Wang Xiangfeng Zhang Zhen Dong Haiming Yang Haiming Yang Yuelin Shen |
| author_sort | Xiaoning Zhang |
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| description | BackgroundDespite 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.MethodsWe 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.ResultsThe 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.ConclusionPCD 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. |
| format | Article |
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| issn | 1663-9812 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Pharmacology |
| spelling | doaj-art-11fb7c92ac214faab7baaeec2ba783e92025-08-20T02:23:28ZengFrontiers Media S.A.Frontiers in Pharmacology1663-98122025-06-011610.3389/fphar.2025.15266751526675Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysisXiaoning Zhang0Xiuhong Jin1Zhiying Zhang2Yanqiong Wang3Xiangfeng Zhang4Zhen Dong5Haiming Yang6Haiming Yang7Yuelin Shen8Respiratory Department, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaRespiratory Department, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaRespiratory Department, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaRespiratory Department, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaRespiratory Department, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaRespiratory Department, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaRespiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, ChinaDepartment 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, ChinaRespiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, ChinaBackgroundDespite 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.MethodsWe 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.ResultsThe 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.ConclusionPCD 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.https://www.frontiersin.org/articles/10.3389/fphar.2025.1526675/fullprimary ciliary dyskinesiacentral Chinaclinical featuregenotypechildren |
| spellingShingle | Xiaoning Zhang Xiuhong Jin Zhiying Zhang Yanqiong Wang Xiangfeng Zhang Zhen Dong Haiming Yang Haiming Yang Yuelin Shen Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis Frontiers in Pharmacology primary ciliary dyskinesia central China clinical feature genotype children |
| title | Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis |
| title_full | Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis |
| title_fullStr | Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis |
| title_full_unstemmed | Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis |
| title_short | Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis |
| title_sort | clinical features and genetic spectrum of children with primary ciliary dyskinesia in central china a referral center retrospective analysis |
| topic | primary ciliary dyskinesia central China clinical feature genotype children |
| url | https://www.frontiersin.org/articles/10.3389/fphar.2025.1526675/full |
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