Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review
Abstract Background Primary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and genetic patterns among populations of different geographic location and ethnic origin. However, data about Chinese patients are limited. We aimed to summarize the clinical and g...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-07-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02427-1 |
| _version_ | 1811287111477755904 |
|---|---|
| author | Bo Peng Yong-hua Gao Jia-qi Xie Xiao-wen He Cong-cong Wang Jin-fu Xu Guo-jun Zhang |
| author_facet | Bo Peng Yong-hua Gao Jia-qi Xie Xiao-wen He Cong-cong Wang Jin-fu Xu Guo-jun Zhang |
| author_sort | Bo Peng |
| collection | DOAJ |
| description | Abstract Background Primary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and genetic patterns among populations of different geographic location and ethnic origin. However, data about Chinese patients are limited. We aimed to summarize the clinical and genetic spectrum of Chinese PCD patients based on all available literatures. Methods We searched Embase, Pubmed, Web of Science and Chinese databases including CNKI, SinoMed and Wanfang from 1981 to 2021, to identify articles reporting patients with PCD in China, which had included information about transmission electron microscopy and/or genetic testing. Results A total of 244 Chinese PCD patients in 52 articles were included. Of these patients, the mean age was 13.1 years, and 55 patients (22.5%) were diagnosed with PCD after 18 years old. Compared with patients diagnosed with PCD in childhood or infancy, patients diagnosed with PCD in adulthood had a higher prevalence of chronic wet cough, sinusitis, Pseudomonas aeruginosa (PA) isolation and radiological bronchiectasis as well as worse lung function. 25 PCD-related genes were identified in 142 patients, and DNAH5, DNAH11, CCDC39 and CCDC40 were the most frequently detected mutations. More than half of genetic variants were loss-of-function mutations, and the majority of these variants were seen only once. Correlations between PCD phenotype, genotype and ciliary ultrastructure were also evidenced. Conclusions Diagnostic delay and under-recognition of PCD remain a big issue in China, which contributes to progressive lung disease and PA infection indicating worse outcome. Specialist equipment and expertise are urgently required to facilitate the early diagnosis and treatment of PCD. Trial registry PROSPERO; No.: CRD42021257804; URL: www.crd.york.ac.uk/prospero/ |
| first_indexed | 2024-04-13T03:13:08Z |
| format | Article |
| id | doaj.art-52685769bbeb4a109879cb73d2f915c5 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-13T03:13:08Z |
| publishDate | 2022-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-52685769bbeb4a109879cb73d2f915c52022-12-22T03:05:00ZengBMCOrphanet Journal of Rare Diseases1750-11722022-07-0117111210.1186/s13023-022-02427-1Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic reviewBo Peng0Yong-hua Gao1Jia-qi Xie2Xiao-wen He3Cong-cong Wang4Jin-fu Xu5Guo-jun Zhang6Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Respiratory and Critical Care Medicine, Shanghai Pulmonary Hospital, Tongji University School of MedicineDepartment of Respiratory and Critical Care Medicine, Xiangyang Central HospitalDepartment of Respiratory and Critical Care Medicine, Xuchang Central HospitalDepartment of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Respiratory and Critical Care Medicine, Shanghai Pulmonary Hospital, Tongji University School of MedicineDepartment of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Zhengzhou UniversityAbstract Background Primary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and genetic patterns among populations of different geographic location and ethnic origin. However, data about Chinese patients are limited. We aimed to summarize the clinical and genetic spectrum of Chinese PCD patients based on all available literatures. Methods We searched Embase, Pubmed, Web of Science and Chinese databases including CNKI, SinoMed and Wanfang from 1981 to 2021, to identify articles reporting patients with PCD in China, which had included information about transmission electron microscopy and/or genetic testing. Results A total of 244 Chinese PCD patients in 52 articles were included. Of these patients, the mean age was 13.1 years, and 55 patients (22.5%) were diagnosed with PCD after 18 years old. Compared with patients diagnosed with PCD in childhood or infancy, patients diagnosed with PCD in adulthood had a higher prevalence of chronic wet cough, sinusitis, Pseudomonas aeruginosa (PA) isolation and radiological bronchiectasis as well as worse lung function. 25 PCD-related genes were identified in 142 patients, and DNAH5, DNAH11, CCDC39 and CCDC40 were the most frequently detected mutations. More than half of genetic variants were loss-of-function mutations, and the majority of these variants were seen only once. Correlations between PCD phenotype, genotype and ciliary ultrastructure were also evidenced. Conclusions Diagnostic delay and under-recognition of PCD remain a big issue in China, which contributes to progressive lung disease and PA infection indicating worse outcome. Specialist equipment and expertise are urgently required to facilitate the early diagnosis and treatment of PCD. Trial registry PROSPERO; No.: CRD42021257804; URL: www.crd.york.ac.uk/prospero/https://doi.org/10.1186/s13023-022-02427-1PCDSystematic reviewGenotypePhenotypeCilia |
| spellingShingle | Bo Peng Yong-hua Gao Jia-qi Xie Xiao-wen He Cong-cong Wang Jin-fu Xu Guo-jun Zhang Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review Orphanet Journal of Rare Diseases PCD Systematic review Genotype Phenotype Cilia |
| title | Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review |
| title_full | Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review |
| title_fullStr | Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review |
| title_full_unstemmed | Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review |
| title_short | Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review |
| title_sort | clinical and genetic spectrum of primary ciliary dyskinesia in chinese patients a systematic review |
| topic | PCD Systematic review Genotype Phenotype Cilia |
| url | https://doi.org/10.1186/s13023-022-02427-1 |
| work_keys_str_mv | AT bopeng clinicalandgeneticspectrumofprimaryciliarydyskinesiainchinesepatientsasystematicreview AT yonghuagao clinicalandgeneticspectrumofprimaryciliarydyskinesiainchinesepatientsasystematicreview AT jiaqixie clinicalandgeneticspectrumofprimaryciliarydyskinesiainchinesepatientsasystematicreview AT xiaowenhe clinicalandgeneticspectrumofprimaryciliarydyskinesiainchinesepatientsasystematicreview AT congcongwang clinicalandgeneticspectrumofprimaryciliarydyskinesiainchinesepatientsasystematicreview AT jinfuxu clinicalandgeneticspectrumofprimaryciliarydyskinesiainchinesepatientsasystematicreview AT guojunzhang clinicalandgeneticspectrumofprimaryciliarydyskinesiainchinesepatientsasystematicreview |