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原发性纤毛运动障碍研究进展 被引量:3

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摘要 原发性纤毛运动障碍是因纤毛结构缺陷导致活动障碍引起纤毛清除功能降低及其他功能障碍的基因遗传病,既往被认为是常染色体隐性遗传,目前发现有X染色体遗传者。该病临床表现多样,可累及多个器官组织,引起了多学科众多学者的关注。不动纤毛综合征可能会引起慢性迁延难治性鼻窦炎,目前该病的诊断和鉴别诊断仍存在困难。全面了解不动纤毛综合征,探讨不动纤毛综合征更简单、准确的诊断方法(排除鼻腔鼻窦病变或手术等引起的纤毛功能异常),将有助于慢性难治性鼻窦炎的诊断和治疗。
出处 《国际耳鼻咽喉头颈外科杂志》 2012年第2期88-92,共5页 International Journal of Otolaryngology-Head and Neck Surgery
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参考文献24

  • 1Moore A, Escudier E, Roger G, et al RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet, 2006, 43 (4) : 326-333.
  • 2Lee L. Mechanisms of mammalian ciliary motility: insights from primary ciliary dyskinesia genetics. Gene, 2011, 473 (2) : 57-66.
  • 3Cardenas-Rodriguez M, Badano JL. Ciliary biology: understanding the c-ellular and genetic basis of human ciliopathies. Am J Med Genet C Semin Med Genet, 2009, 151 (4) : 263-280.
  • 4周剑平,李庆云,万欢英,邓伟吾.不动纤毛综合征合并耳聋及早期精神分裂症一例报道[J].上海交通大学学报(医学版),2007,27(9):1171-1172. 被引量:4
  • 5Ernstson S, Afzelius BA, Mossberg B, et al. Otologic manifestations of the immotile-cilia syndrome. Acta Otolaryngol, 1984, 97 (1-2) : 83-92.
  • 6Bukowy Z, Zietkiewicz E, Witt M, et al. In vitro culturing of ciliary respiratory cells-a model for studies of genetic diseases. J ApplGenet, 2011, 52 (1) : 39-51.
  • 7Zuccarello D, Ferlin A, Cazzadore C, et al. Mutations in dynein genes in ]patients affected by isolated non-syndromic asthenozoospermia. HumReprod, 2008, 23 (8) .. 1957-1962.
  • 8刘鑫.Kartagener综合征的影像诊断(附6例分析及文献复习)[J].实用医学影像杂志,2009,10(1):19-20. 被引量:5
  • 9殷勇,肖洁.原发性纤毛运动障碍临床研究进展[J].国际儿科学杂志,2006,33(4):242-244. 被引量:9
  • 10王保法.不动纤毛综合征[J].河北医药,1985,7(2):98-99.

二级参考文献51

  • 1刘云霞,宗晓福.支气管扩张-鼻旁窦炎-内脏转位综合征2例[J].临床肺科杂志,1999,4(1):48-48. 被引量:4
  • 2刘进康,夏宇,王维,张子署.Kartagener综合征的影像学诊断[J].临床放射学杂志,2005,24(5):403-405. 被引量:26
  • 3Pino Rivero V,Pardo Romero G,Iglesias Gonzalez RJ,et al.Kart-agener syndrome (primary ciliary dyskinesia).report of a case and literature review[J].An Otorrinolaringol Ibero Am,2007,34(3):251- 256.
  • 4Ortega HA,Vega Nde A, Santos BG,et al.Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome [J].J Bras Pneumol,2007,33 (5):602-608.
  • 5Schwabe GC,Hoffmann K, Loges NT,et al. Primary ciliary dyskinesia associated with normal axoneme uhrastructure is caused by DNAH 11 mutations[J].Hum Murat,2008,29(2):289-298.
  • 6Morillas HNZariwala M,Knowles MR. Genetic causes of bronchi ectasis:primaty ciliary dyskinesia [J].Respiration,2007,74(3):252-263.
  • 7Geremek M,Schoenmaker F,Zeitkiewicz E,et al.Sequence analysis of 21 genes located in the kartagener syndrome likage region on chromosome 15 q [J].Eur J Hum Genet,2008,16 (6):688- 695.
  • 8Tanaka K,Sutani A,Uchida Y, et al.Ciliary uhrastructure in two sister with kartagener's syndrome[J].Med Mol Morphol,2007,40(1):34-39.
  • 9Kennedy MP,Ncone PG,Leigh MW,et al.High-resolusion CT of patients with primary ciliary dyskinesia [J].Am J Roentgenol,2007, 188(5):1232-1238.
  • 10Cowan MJ,Gladwin MT,Shelhamer JH.Disorders of ciliary motility[J].Am J Med Sci,2001,321(1):3-10.

共引文献30

同被引文献34

  • 1殷勇,肖洁.原发性纤毛运动障碍临床研究进展[J].国际儿科学杂志,2006,33(4):242-244. 被引量:9
  • 2秦天娥,陈小燕,王茂筠.卡塔格内综合征[J].临床荟萃,2006,21(20):1517-1518. 被引量:6
  • 3沈翎,王旭萌,陈慧萍,沈雪琴.电子鼻咽喉镜在小儿腺样体肥大诊治中的应用[J].中国耳鼻咽喉颅底外科杂志,2007,13(1):54-57. 被引量:11
  • 4邹明舜.儿童增殖腺-鼻咽腔比率测定的临床价值[J].中华放射学杂志,1997,31(3):190-192. 被引量:447
  • 5黄选兆;汪吉宝;孔维佳.分泌性中耳炎[M]{H}北京:人民卫生出版社,2007848-853.
  • 6Kalu SU,Hall MC. A study of clinician adherence to treatment guidelines for otitis media with effusion[J].{H}WMJ:Official Publication of the State Medical Society of Wisconsin,2010,(01):15-20.
  • 7Cassano P,Gelardi M,Cassano M. Adenoid tissue rhinopharyngeal obstruction grading based on fiberendoscopic findings:a novel approach to therapeutic management[J].{H}International Journal of Pediatric Otorhinolaryngology,2003,(12):1303-1309.
  • 8Franco RA Jr,Rosenfeld RM,Rao M. First place--resident clinical science award 1999. Quality of life for children with obstructive sleep apnea[J].{H}Otolaryngology Head and Neck Surgery,2000,(1 Pt 1):9-16.
  • 9Pereira PK,Azevedo MF,Testa JR. Conductive impairment in newborn who failed the newborn hearing screening[J].Braz J Otorhinolaryngol,2010,(03):347-354.
  • 10Bayramo?lu I,Ardi?FN,Kara CO. Importance of mastoid pneumatization on secretory otitis media[J].{H}International Journal of Pediatric Otorhinolaryngology,1997,(01):61-66.

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