[1] |
Takeuchi K, Kitano M, Ishinaga H, et al. Recent advances in primary ciliary dyskinesia. Auris Nasus Larynx, 2016, 43(3):229-236. doi:10.1016/j.anl.2015.09.012.
doi: 10.1016/j.anl.2015.09.012
pmid: 26527516
|
[2] |
Horani A, Ferkol TW. Advances in the Genetics of Primary Ciliary Dyskinesia: Clinical Implications. Chest, 2018, 154(3):645-652. doi:10.1016/j.chest.2018.05.007.
doi: S0012-3692(18)30754-2
pmid: 29800551
|
[3] |
Kuehni CE, Frischer T, Strippoli MP, et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J, 2010, 36(6):1248-1258. doi:10.1183/09031936.00001010.
doi: 10.1183/09031936.00001010
pmid: 20530032
|
[4] |
Sleigh MA. Primary ciliary dyskinesia. Lancet, 1981, 2(8244):476. doi:10.1016/s0140-6736(81)90811-4.
doi: 10.1016/s0140-6736(81)90811-4
pmid: 6115234
|
[5] |
Wallmeier J, Nielsen KG, Kuehni CE, et al. Motile ciliopathies. Nat Rev Dis Primers, 2020, 6(1):77. doi:10.1038/s41572-020-0209-6.
doi: 10.1038/s41572-020-0209-6
pmid: 32943623
|
[6] |
王昊, 徐保平. 儿童原发性纤毛运动障碍遗传发病机制与基因诊断研究进展. 中华实用儿科临床杂志, 2021, 36(10):786-789. doi:10.3760/cma.j.issn.1674-2397.2019.01.002.
doi: 10.3760/cma.j.issn.1674-2397.2019.01.002
|
[7] |
Guo Z, Chen W, Huang J, et al. Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations. J Hum Genet, 2019, 64(8):711-719. doi:10.1038/s10038-019-0609-1.
doi: 10.1038/s10038-019-0609-1
|
[8] |
Mitchison HM, Schmidts M, Loges NT, et al. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet, 2012, 44(4):381-389, S1-2. doi:10.1038/ng.1106.
doi: 10.1038/ng.1106
pmid: 22387996
|
[9] |
Sommer JU, Schäfer K, Omran H, et al. ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities. Eur Arch Otorhinolaryngol, 2011, 268(3):383-388. doi:10.1007/s00405-010-1341-9.
doi: 10.1007/s00405-010-1341-9
pmid: 20652291
|
[10] |
Pifferi M, Di Cicco M, Piras M, et al. Up to date on primary ciliary dyskinesia in children. Early Hum Dev, 2013, 89 Suppl 3:S45-48. doi:10.1016/j.earlhumdev.2013.07.022.
doi: 10.1016/j.earlhumdev.2013.07.022
|
[11] |
仇鑫, 周晓莉, 丁薇, 等. 原发性纤毛不动综合征一例. 中华肺部疾病杂志(电子版), 2016, 9(5):572-574. doi:10.3877/cma.j.issn.1674-6902.2016.05.027.
doi: 10.3877/cma.j.issn.1674-6902.2016.05.027
|
[12] |
Noone PG, Leigh MW, Sannuti A, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med, 2004, 169(4):459-467. doi:10.1164/rccm.200303-365OC.
doi: 10.1164/rccm.200303-365OC
URL
|
[13] |
Stannard WA, Chilvers MA, Rutman AR, et al. Diagnostic testing of patients suspected of primary ciliary dyskinesia. Am J Respir Crit Care Med, 2010, 181(4):307-314. doi:10.1164/rccm.200903-0459OC.
doi: 10.1164/rccm.200903-0459OC
URL
|
[14] |
徐保平, 蔡栩栩, 朱春梅, 等. 儿童原发性纤毛运动障碍诊断与治疗专家共识. 中华实用儿科临床杂志, 2018, 33(2): 94-99. doi:10.3760/cma.j.issn.2095-428X.2018.02.004.
doi: 10.3760/cma.j.issn.2095-428X.2018.02.004
|
[15] |
Boon M, De Boeck K, Jorissen M, et al. Primary ciliary dyskinesia and humoral immunodeficiency-is there a missing link? Respir Med, 2014, 108(6):931-934. doi:10.1016/j.rmed.2014.03.009.
doi: 10.1016/j.rmed.2014.03.009
URL
|
[16] |
Hosoki K, Fujisawa T, Masuda S, et al. A case of primary ciliary dyskinesia who had been treated as asthma. Arerugi, 2010, 59(7):847-854.
|
[17] |
Chen W, Shao C, Song Y, et al. Primary ciliary dyskinesia complicated with diffuse panbronchiolitis: a case report and literature review. Clin Respir J, 2014, 8(4):425-430. doi:10.1111/crj.12089.
doi: 10.1111/crj.12089
pmid: 24308375
|
[18] |
中华人民共和国国家卫生健康委员会, 国家中医药管理局. 儿童社区获得性肺炎诊疗规范(2019年版). 中华临床感染病杂志, 2019, 12(1):6-13. doi:10.3760/cma.j.issn.1674-2397.2019.01.002.
doi: 10.3760/cma.j.issn.1674-2397.2019.01.002
|
[19] |
Parsons DS, Greene BA. A treatment for primary ciliary dyskinesia: efficacy of functional endoscopic sinus surgery. Laryngoscope, 1993, 103(11 Pt 1):1269-1272. doi:10.1288/00005537-199311000-00010.
doi: 10.1288/00005537-199311000-00010
pmid: 8231581
|
[20] |
Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child, 2007, 92(12):1136-1140. doi:10.1136/adc.2006.096958.
doi: 10.1136/adc.2006.096958
pmid: 17634184
|
[21] |
Barbato A, Frischer T, Kuehni CE, et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J, 2009, 34(6):1264-1276. doi:10.1183/09031936.00176608.
doi: 10.1183/09031936.00176608
pmid: 19948909
|