李亚明;张进召;刁鑫;

• 1:西安医学院第一附属医院呼吸与危重症医学科

摘要(Abstract)：

Kartagener综合征是一种临床罕见的常染色体隐性遗传性疾病,发病率极低,主要表现为支气管扩张、慢性鼻窦炎、内脏反位三联征,电镜下纤毛超微结构联合光镜下纤毛功能检查是目前临床诊断Kartagener综合征的"金标准"。本文报道了两例完全型Kartagener综合征患者并进行了文献复习,为进一步提高临床对该病的诊治水平提供参考。

关键词(KeyWords)： 卡塔格内综合征;纤毛运动障碍;支气管扩张症;鼻窦炎;内脏异位综合征;病例报告;历史文献

Abstract:

Keywords:

基金项目(Foundation):

作者(Author): 李亚明;张进召;刁鑫;

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参考文献(References)：

• [1]SERAPINAS D,STAIKUNIENE J,BARKAUSKIENE D,et al.An unusual regression of the symptoms of Kartagener syndrome[J].Arch Bronconeumol,2013,49(1):28-30.DOI:10.1016/j.arbres.2012.02.021.
• [2]邹艳，翟雪松.Kartagener综合征一例并文献复习[J].中国优生与遗传杂志，2011,19(3):88-89.ZOU Y,ZHAI X S.Case report of Kartagener syndrome and literature review[J].Chinese Journal of Birth Health&Heredity,2011,19(3):88-89.
• [3]LEIGH M W,PITTMAN J E,CARSON J L,et al.Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome[J].Genet Med,2009,11(7):473-487.DOI:10.1097/GIM.0b013e3181a53562.
• [4]BERDON W E,WILLI U.Situs inversus,bronchiectasis and sinusitis and its relation to immotile cilia:history of the diseases and their discoverers-Manes Kartagener and Bjorn Afzelius[J].Pediatr Radiol,2004,34(1):38-42.DOI:10.1007/s00247-003-1072-9.
• [5]KENDIGELEN P,TüTüNCüA C,ERBABACAN S E,et al.Anaesthetic Management of a Patient with Synchmnous Kartagener Syndrome and Biliary Atresia[J].Turk J Anaesthesiol Reanim,2015,43(3):205-208.DOI:10.5152/TJAR.2015.94546.
• [6]HOSIE P H,FITZGERALD D A,JAFFE A,et al.Presentation of primary ciliary dyskinesia in the children:30 years'experience[J].J Paediatr Child Health,2015,51(7):722-726.DOI:10.1111/jpc.12791.
• [7]常双喜，卢春玲，禹彩霞，等.完全性Kartagener综合征合并左侧气胸、Ⅰ型呼吸衰竭1例并文献复习[J].国际呼吸杂志，2014,34(6):425-426.DOI:10.3760/cma.j.issn.1673-436X.2014.06.007.CHANG S X,LU C L,YU C X,et al.Complete Kartagener's syndrome with left pneumothorax andⅠbreath prostrate:a case report and literature review[J].International Journal of Respiration,2014,34(6):425-426.DOI:10.3760/cma.j.issn.1673-436X.2014.06.007.
• [8]徐增梅，童佳兵.Kartagener综合征1例[J].临床肺科杂志，2014,19(9):1745-1746.DOI:10.3969/j.issn.1009-6663.2014.09.072.
• [9]MORILLAS H N,ZARIWALA M,KNOWLES M R.Genetic causes of bronchiectasis:primary ciliary dyskinesia[J].Respiration,2007,74(3):252-263.
• [10]KURKOWIAK M,ZIETKIEWICZ E,WITT M.Recent advances in primary ciliary dyskinesia genetics[J].J Med Genet,2015,52(1):1-9.DOI:10.1136/jmedgenet-2014-102755.
• [11]杨海华，李善群，金先桥，等.Kartagener综合征2例及文献复习[J].国际呼吸杂志，2015,35(11):853-856.DOI:10.3760/cma.j.issn.1673-436X.2015.11.013.YANG H H,LI S Q,JIN X Q,et al.Kartagener syndrome:a report of 2 cases and review of the literature[J].International Journal of Respiration,2015,35(11):853-856.DOI:10.3760/cma.j.issn.1673-436X.2015.11.013.
• [12]纪娟，巩强进，张念志.Kartagener综合征2例并文献复习[J].临床肺科杂志，2015,20(7):1354-1356.DOI:10.3969/j.issn.1009-6663.2015.07.063.
• [13]李华，施蓉萍.Kartagener综合征1例并文献复习[J].中华肺部疾病杂志（电子版），2012,5(6):575-576.DOI:10.3877/cma.j.issn.1674-6902.2012.06.022.LI H,SHI R P.One case of kartagener syndrome and literature review[J].Chinese Journal of Lung Disease(Electronic Edition),2012,5(6):575-576.DOI:10.3877/cma.j.issn.1674-6902.2012.06.022.
• [14]金贝贝，田欣伦，郑姝颖，等.原发性不动纤毛综合征四例并文献复习[J].中华结核和呼吸杂志，2010,33(3):197-201.DOI:10.3760/cma.j.issn.1001-0939.2010.03.012.JIN B B,TIAN X L,ZHENG S Y,et al.Clinical analysis of four cases of primary ciliary dyskinesia and literature review[J].Chinese Journal of Tuberculosis and Respiratory Diseases,2010,33(3):197-201.DOI:10.3760/cma.j.issn.1001-0939.2010.03.012.
• [15]王立非，关玉宝，顾莹莹，等.Kartagener's综合征伴细支气管炎：影像诊断及随访[J].中国医学影像技术，2009,25(11):2040-2042.DOI:10.3321/j.issn:1003-3289.2009.11.029.WANG L F,GUAN Y B,GU Y Y,et al.Bronchiolitis in Kartagener syndrome:imaging gdiagnosis and following up[J].Chinese Journal of Medical Imaging Technology,2009,25(11):2040-2042.DOI:10.3321/j.issn:1003-3289.2009.11.029.
• [16]BRAUN J J,DONATO L,CLAVERT A,et al.Primary ciliary dyskinesia.Clinical presentation and diagnosis[J].Ann Otolaryngol Chir Cervicofac,2005,122(2):63-68.DOI:10.1016/s0003-438x(05)82326-6.
• [17]顾国忠，孙启玉，董晓丰.Kartagener综合征1例报告并文献复习[J].中国误诊学杂志，2012,12(4):945-946.
• [18]刘大锐，田磊.完全型Kartagener综合征合并支气管哮喘1例[J].临床肺科杂志，2016,21(5):969-970.DOI:10.3969/j.issn.1009-6663.2016.05.062.
• [19]GUPTA S,HANDA K,KASLIWAL R R,et al.A case of Kartagener's syndrome:Importance of early diagnosis and treatment[J].Indian J Hum Genet,2012,18(2):263-267.DOI:10.4103/0971-6866.100787.

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