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发育性髋关节发育不良一个家系调查及其危险因素分析 认领 被引量:4

One family investigation and risk factors analysis of developmental dysplasia of the hip
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摘要 目的 了解发育性髋关节发育不良(developmental dysplasia of the hip,DDH)家系患者的临床表现及其危险因素。方法 对1个DDH家系中的全部成员进行详细的流行病学调查、体格检查、运动功能评定、实验室检查及X线拍片检查。结果 9代218人聚居的家系,现存145人中DDH的发生率为31.03%,患者主要表现为双侧膝关节和髋关节对称性疼痛,髋屈曲、内外旋、活动受限,部分患者出现关节运动功能障碍及畸形而跛行。影像学改变主要以髋臼浅平,倾斜度增加,对股骨头包容不足、股骨头形态失常、关节间隙狭窄呈退行性改变为主。DDH发生的主要危险因素为遗传因素、性别、出生的季节等,家系中双亲或一方为DDH者其子女发生DDH的危险性比非患者双亲高,有一级亲属患DDH者比二、三级亲属者患病的危险性高;女性患病高于男性,冬季出生者高于其它几个季节,但儿童青少年发病率与成人无差异,与家系无血缘关系的迁入者与有血缘关系的家族成员发病率也无差异。结论 遗传因素对发育性髋关节发育不良的发生有一定作用,但后天的一些环境因素也起着重要作用。 Objective To investigate the clinical manifestations and risk factors of the patients from developmental dysplasia of the hip(DDH) family. Methods Detailed epidemiology investigation, physical examination, functional movement assessment, lab test and X-ray examination were applied to the whole members of a DDH family. Results In the family with 9 generations and 218 persons, the incidence of DDH was 31.03% in 145 survivors. Patients mainly manifested bilateral knee and hip joint pain, flexion contracture of hip, limitation in internal and external rotation of hip; a few had arthritic functional disorder, deformation, and limp. The radiography illustrated shallow acetabulum with increased inclination, which encompassed the femoral head badly. Deformation of the femoral bead, narrow joint space and esteephyte were also found by X-ray examinaition. The main risk factors of DDH were genetic factors, gender, birth season etc. The son or daughter with one or two DDH parents had a higher risk for developing DDH than those with no DDH parents. Furthermore, first-degree relatives of the DDH patients also had a greater chance to develop DDH than second- degree relatives and third-degree relatives. The incidence among females was higher than males, and the family member who was given birth in winter had a highest risk for developing DDH. However, there was no difference between incidence of DDH in children and youths and in adults; the incidence of DDH in the immigrants with no blood relationship also did not differ from the incidence of DDH in the family member. Conclusion The genetic factors play an important role in the development of DDH, so do the environmental factors.
作者 应桂英 贾勇 裴福兴 周宗科 栾荣生 余海涛 杨静 沈彬 冯卫 陈治宇 郑友成 刘文国 唐书贵 宋志勇 YING Gui-ying, JIA Yong, PEI Fu-xing, ZHOU Zong-ke, LUAN Rong-sheng, YU Hai-tao, YANG Jing, SHEN Bin, FENG Wei, CHEN Zhi-yu, ZHENG You-cheng, UU Wen-guo, TANG Shu-gui, SONG Zhi-yong. ( 1Department of Epidemic, School of Public Health, West China Medical Genter , Sichuan Universtiy , Chengdu, Sichuan, 610041 P.R. China ; 2 Chengdu Center for Disease Control and Prevention, Chengdu, Sichuan, 610041 P.R. China); 3 Department of Orthopaedics , West China Hospital, Sichuan Universtiy , Chengdu, Sichuan, 610041 P. R. China; 4 Chongzhou Center for Disease Control and Prevention, Chongzhou, Sichuan, 611230 P. R. China); 5 People' s Hospital of Chongzhou, Chongzhou, Sichuan, 611230 P.R. China)
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2007年第1期 84-87,共4页 Chinese Journal of Medical Genetics
基金 成都市卫生局青年基金(05020) 成都市卫生局专项基金、成都市疾病预防控制中心重点项目基金.志谢四川大学华西医院放射科宋彬教授、邹翎老师等在影像学诊断方面所给予的大力支持,特致谢意
关键词 发育性髋关节发育不良 家系 临床表现 危险因素 developmental dysplasia of the hip pedigree clinical manifestation risk factor
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  • 1张德昌,马贵,王志纯,褚瑞华.成人髓关节X线测量及其临床应用[J].实用放射学杂志,1993,9(11):655-658. 被引量:6
  • 2潘兵.早期成人髋臼发育不良的诊断和手术治疗[J].上海医学,1995,18(1):58-62. 被引量:10
  • 3刘旭林 周承涛 杜玉清 等.成人髋臼发育不良和CT测量评价[J].中华放射学杂志,2001,10(34):52-54. 被引量:1
  • 4[15]Raff ML,Craigen WJ,Smith LT,et al.Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type Ⅶ[J].Hum Genet,2000,106:19~28. 被引量:1
  • 5[16]Kuivaniemi H,Tromp G,Prockop DJ.Mutations in fibrillar collagens,fibr1-associated collagen,and network-forming cause a spectrum of disease of bone,cartilage,and blood vessels[J].Hum Mutat,1997,9:300~315. 被引量:1
  • 6[17]Colige A,Sieron AL,Li SW,et al.Human Ehlers-danlos syndrome type Ⅶ C and bovine dermatosparaxis are caused by mutations in the procollagen ⅠN-proteinase gene[J].Am J Hum Genet,1999,65:308~317. 被引量:1
  • 7[18]Lee B,Godfrey M,Vitale E,et al.Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes[J].Nature,1991,352:330~334. 被引量:1
  • 8[19]Dietz HC,Cutting GR,Pyeritz RE,et al.Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene[J].Nature,1991,352:337~339. 被引量:1
  • 9[20]Liu W,Qian C,Comeau K,et al.Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibri assembly and cause severe marfan syndrome[J].Hum Molec Genet,1996,5:1581~1587. 被引量:1
  • 10[21]Robinson PN,Godfrey M.The molecular genetics of Marfan syndrome and related microfibrillopathies[J].J Med Genet,2000,37:9~25. 被引量:1

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