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家族性尿道下裂2系5例 被引量:1

Etiologic analysis of familial Hypospadias
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摘要 目的:探讨诱发家族性尿道下裂的因素和治疗方法。方法:对2系5例家族性尿道下裂患者分别行一期尿道成形术、阴茎腹曲矫正术治疗。结果:5例中2例术后出现尿瘘,分别于术后6个月行尿瘘修补术、4年后行二期带蒂阴囊正中皮瓣尿道成形术,均治愈。结论:家族性尿道下裂基因易感因素发挥着主要作用,手术矫正是有效的治疗方法。 Objective To explore the risk factors for hypospadias. Methods Five cases of familial hypo-spadias were retrospectively studied by analyzing the related information of hypospadias phenotype,accompanying other genital malformations,the history of familial hereditary disease family formation,living environment,etc. Results Case 1 and case 2 were first cousins. Case 3 and case 4 were brothers,without other brothers and sis-ters. Case 5 was a cousin of case 3 and case 4,and had only one sister.They had common uncle and aunt,whose familial generation were all females free from deformation.The 5 cases:lived in countryside;without causative fac-tor inducing abnormal growth of urethra;non-consanguineous marriage of grandparent and parents;without family medical history of external deformation;natural gravidity as well as their parents;their parents wre free from relat-ed drug-taking in pregnacy. Conclusion The causative factors of the familial hypospadias are multiple,but the potential effects of genetic susceptibility play the key role.For partial familial hypospadias,the potential ef-fects of genetic susceptibility may be the single and independent factor.
机构地区 解放军第
出处 《中国中西医结合外科杂志》 CAS 2014年第3期248-250,共3页 Chinese Journal of Surgery of Integrated Traditional and Western Medicine
关键词 尿道下裂 家族性 病因素 Hypospadias familial etiology
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  • 1吴艳乔,王艳萍,朱军,曾敏缪,蕾须,昌隆,周光萱,李喜庆,肖坤则.国人尿道下裂的流行病学特征[J].中华泌尿外科杂志,1997,18(12):753-757. 被引量:36
  • 2Kalfa N, Sultan C,Baskin LS.Hypospadias:etiology and current re- search[J]. Urol Clin North Am, 2010,37(2):159-166.
  • 3Kojima Y, Kohri K, Hayashi Y.Genetic pathway of external genita- lia formation and molecular etiology of hypospadias[J]. J Pediatr Urol, 2010,6(4):346-354.
  • 4Chu J, Zhang R, Zhao Z, et al.Male fertility is compatible with an Arg840Cys substitution in the AR in a large Chinese family affect- ed with divergent phenotypes of AR insensitivity syndrone[J].J Clin Endoerinol Metab, 2002,87(1):347-351.
  • 5Thai HT, Siklerhall C, Lagerstedt K, et al.A new susceptibility lo- cus for hypospadias on chromosome 7q32.2-q36.1[J]. Hum Genet, 2008,124(2):155-160.
  • 6Yiee JH,Baskin LS.Environmental factom in genitourinary devel- op- ment[J].J Urol,2010,184(1):34-41.
  • 7Brouwers MM,Feitz WF.Risk factors for hypospadias[J].Eur J Pedi- atr, 2007,166(7):671-678.
  • 8FredeU L,Iselius L,Collins A.Complex segregation analysis of hypo- spadias[J].Hum Genet,2002,111(3):231-234.
  • 9Baskin LS.Hypospadias[J].Adv Exp Med Biol,2004,54(5):3-22.
  • 10Tine H.Sehnaekl,et al.Familial Aggregation of Hypospadias:A Co- hort Study[J].Am J Epidemiol, 2008,167(3):251-256.

二级参考文献1

  • 1吴艳乔,华西医科大学学报,1995年,26卷,215页

共引文献35

同被引文献13

  • 1谢炳柱,詹敏.尿道下裂危险因素的Logistic回归分析[J].实用医技杂志,2006,13(23):4120-4122. 被引量:3
  • 2Mavrogenis S, et al. Possible preventive effect of high doses of folic acid for isolated hypospadias :A national population-based case- control study[J].Am J Med Genet Part A.9999:1-7.
  • 3Baskin LS, Himes K, Colborn T. Hypospadias and endocrine dis- ruption :is there a connection?[J].Environ Health Perspect, 2001, 109 (11) :1175-1183.
  • 4Kurahashi N, et al. The estimated prevalence of hypospadias in Hokkaido, Japan[J].J Epidemiol, 2004,14 (3) :73-77.
  • 5Orkiszew skim. A standardized classification of hypospadias[J].J Pediatr Urol, 2012,8 (4) :410-414.
  • 6Pereira AC, et al. Lack of evidence of association between MTHFR C677T polymorphism and congenital heart disease in a TDT study design[J].Int J Cardiol, 2005, 105 : 15-18.
  • 7Christianne A.R.de Kort, Mark J. Nieuwenhuijsen, Michelle A. Mendez. Relationship between maternal dietary patterns and hypospadiass[J].Paediatric and Perinatal Epidemiology, 2011,25 255-264.
  • 8Perales D, Martinez de J, Villarreal LE, et al. Folic acid levels homocysteine and polymorphism of methylenetetrahy drofolate reductase enzyme (MTHFR) in patients with pre-eclampsia and eclampsia[J].Gineco Lobster Mex, 2001,23 (69) :6-11.
  • 9马明月,刘舸,杨屹,郭丽,徐军,张玉敏,裴秀丛,段志文.单纯性尿道下裂发病影响因素病例对照研究[J].中国公共卫生,2012,28(6):834-836. 被引量:2
  • 10王瑞芳,董治亚,王伟,沈丽萍,肖园,王秀民,陆文丽,孙文鑫,倪继红,陈凤生,王德芬.52例尿道下裂患者5α-还原酶2型基因突变研究[J].中国实用儿科杂志,2012,27(9):693-696. 被引量:4

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