Journal of Shandong University (Health Sciences) ›› 2022, Vol. 60 ›› Issue (8): 103-108.doi: 10.6040/j.issn.1671-7554.0.2022.0205
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WANG Lumin, ZHOU Shiying, HUANG Qikun, LIU Yanli
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[1] Lucas JS, Davis SD, Omran H, et al. Primary ciliary dyskinesia in the genomics age[J]. Lancet Respir Med, 2020, 8(2): 202-216. [2] Hannah WB, Seifert BA, Truty R, et al. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis[J]. Lancet Respir Med, 2022, 10(5): 459-468. [3] Mullowney T, Manson D, Kim R, et al. Primary ciliary dyskinesia and neonatal respiratory distress[J]. Pediatrics, 2014, 134(6): 1160-1166. [4] 张静, 白银, 尤少华, 等. Kartagener综合征合并分泌性中耳炎患者的基因诊断[J].中华耳科学杂志, 2014, 12(1): 41-44. ZHANG Jing, BAI Yin, YOU Shaohua, et al. Gene diagnosis in patients with Kartagener syndrome induced chronic secretory otitis media[J]. Chinese Journal of Otology, 2014, 12(1): 41-44. [5] Rollin M, Seymour K, Hariri M, et al. Rhinosinusitis, symptomatology & absence of polyposis in children with primary ciliary dyskinesia[J]. Rhinology, 2009, 47(1): 75-78. [6] Lucas JS, Barbato A, Collins SA, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia[J]. Eur Respir J, 2017, 49(1): 1601090. [7] Shapiro AJ, Davis SD, Polineni D, et al. Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society Clinical Practice Guideline[J]. Am J Respir Crit Care Med, 2018, 197(12): e24-e39. [8] 中国罕见病联盟呼吸病学分会,原发性纤毛运动障碍诊断与治疗中国共识专家组. 原发性纤毛运动障碍诊断与治疗中国专家共识[J]. 上海医学, 2020, 43(4): 193-202. [9] 中华医学会儿科学分会呼吸学组疑难少见病协作组,国家呼吸系统疾病临床医学研究中心,《中华实用儿科临床杂志》编辑委员会. 儿童原发性纤毛运动障碍诊断与治疗专家共识[J]. 中华实用儿科临床杂志,2018, 33(2): 94-99. [10] Wallmeier J, Nielsen KG, Kuehni CE, et al. Motile ciliopathies[J]. Nat Rev Dis Primers, 2020, 6(1): 77. [11] 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[J].中华实用儿科临床杂志, 2021, 36(10): 786-789. WANG Hao, XU Baoping. Research progress on genetic pathogenesis and gene diagnosis of primary ciliary dyskinesia in children[J]. Chin J Appl Pediatr, 2021, 36(10): 786-789. [12] 王珂, 陈星, 郭春艳. 等. 原发性纤毛运动障碍三例纤毛结构与基因变异并文献复习[J].中华儿科杂志, 2018, 56(2): 134-137. WANG Ke, CHEN Xing, GUO Chunyan, et al. Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review[J]. Chin J Pediatr, 2018, 56(2): 134-137. [13] Guo T, Tan ZP, Chen HM, et al. An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families[J]. Sci Rep, 2017, 7(1): 7905. [14] 李莹, 付文龙, 田代印, 等. 基因检测确诊纤毛结构正常的原发性纤毛运动障碍2例病例报告[J].中国循证儿科杂志, 2020, 15(5): 394-396. [15] Sui W, Hou X, Che W, et al. CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature[J]. Clin Respir J, 2016, 10(5): 614-621. [16] Liu L, Luo H. Whole-exome sequencing identified a novel compound heterozygous mutation of LRRC6 in a Chinese primary ciliary dyskinesia patient[J]. Biomed Res Int, 2018, 2018: 1854269. doi: 10.1155/2018/1854269. [17] Li Y, Jiang C, Zhang X, et al. The effect of a novel LRRC6 mutation on the flagellar ultrastructure in a primary ciliary dyskinesia patient[J]. J Assist Reprod Genet, 2021, 38(3): 689-696. [18] Guan Y, Yang H, Yao X, et al. Clinical and genetic spectrum of children with primary ciliary dyskinesia in China[J]. Chest, 2021, 159(5): 1768-1781. [19] Liu L, Zhou K, Song Y, et al. CCDC40 mutation as a cause of infertility in a Chinese family with primary ciliary dyskinesia[J]. Medicine, 2021, 100(51): e28275. [20] Dai HL, Wang D, Guang XF, et al. Pulmonary hypertension in a patient with Kartagener’s syndrome and a novel homozygous nonsense mutation in CCDC40 gene: a case report[J]. Front Med(Lausanne), 2022, 9: 860684. doi: 10.3389/fmed.2022.860684. [21] Wang L, Zhao X, Liang H, et al. Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review[J]. BMC Pulm Med, 2021, 21(1): 263. [22] Guo Z, Chen W, Wang L, et al. Clinical and genetic spectrum of children with primary ciliary dyskinesia in China[J]. J Pediatr, 2020, 225: 157-165.e5. doi: 10.1016/j.jpeds.2020.05.052. [23] Xu X, Gong P, Wen J. Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations[J]. J Assist Reprod Genet, 2017, 34(2): 275-281. [24] Kobbernagel HE, Buchvald FF, Haarman EG, et al. Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia(BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial[J]. Lancet Respir Med, 2020, 8(5): 493-505. [25] Davis SD, Rosenfeld M, Lee HS, et al. Primary ciliary dyskinesia: longitudinal study of lung disease by ultrastructure defect and genotype[J]. Am J Respir Crit Care Med, 2019, 199(2): 190-198. [26] Frija-Masson J, Bassinet L, Honoré I, et al. Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia[J]. Thorax, 2017, 72(2): 154-160. |
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