期刊文献+

先天性巨结肠术后逆行射精一例报告

Retrograde ejaculation after congenital megacolon surgery:a case report
原文传递
导出
摘要 先天性巨结肠(hirschsprung’s disease,HSCR)又称肠管无神经节细胞症,是一种婴幼儿常见的消化道梗阻疾病,发病率为1/5 000,男女比例为4∶1[1]。主要病因是在胚胎发育的5~12周,神经嵴细胞在迁移过程中受阻,导致结肠远端神经节细胞缺失,引起持续性痉挛,近端肠管扩张。临床表现为腹胀、呕吐及排便障碍等[2]。本文报告一例HSCR术后逆行射精患者,病因主要考虑为HSCR手术的副损伤。临床资料患者,男,21岁,因自觉有射精感觉,无精液排出于中山大学附属第三医院不育与性医学科就诊。既往史:HSCR病史,开腹HSCR根治术手术史(婴儿期)。查体:左下腹正中见手术瘢痕。
作者 陈利军 杨晓健 张炎 陆敏华 张浩 Chen Lijun;Yang Xiaojian;Zhang Yan
出处 《中华腔镜泌尿外科杂志(电子版)》 2021年第4期352-353,共2页 Chinese Journal of Endourology(Electronic Edition)
基金 国家自然科学基金(81771565) 广东省基础与应用基础研究基金(2019A1515010975)。
  • 相关文献

参考文献2

二级参考文献97

  • 1Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M. SOX10 muta- tions in patients with Waardenburg-Hirschsprung disease. Nat Genet 1998; 18:171-173.
  • 2Touraine RL, Attie-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Auge J, Nivelon-Che- vallier A, Holschneider AM, Munnes M, Doerfler W, Goos- sens M, Munnich A, Vekemans M, Lyonnet S. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet 2000; 66:1496-1503.
  • 3Southard-Smith EM, Angrist M, Ellison JS, Agarwala R, Baxevanis AD, Chakravarti A, Pavan WJ. The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg- Shah (WS4) syndrome. Genome Res 1999; 9:215-225.
  • 4Sanchez-Mejias A, Watanabe Y, M Fernandez R, Lopez- Alonso M, Antifiolo G, Bondurand N, Borrego S. Involve- ment of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient. J Mol Med (Berl) 2010; 88:507-514.
  • 5Southard-Smith EM, Kos L, Pavan WJ. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 1998; 18:60-64.
  • 6Kapur RP. Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10(Dom)/Sox10(Dom) mouse embryos. Pediatr Dev Pathol 1999; 2:559-569.
  • 7Stanchina L, Baral V, Robert F, Pingault V, Lemort N, Pach- his V, Goossens M, Bondurand N. Interactions between Sox10, Edn3 and Edn.rb during enteric nervous system and melanocyte development. Dev Biol 2006; 295:232-249.
  • 8Maka M, Stolt CC, Wegner M. Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect. Dev Biol 2005; 277: 155-169.
  • 9Lang D, Chen F, Milewski R, Li J, Lu MM, Epstein JA. Pax3 is required for enteric ganglia formation and functions with Soxl0 to modulate expression of c-ret. J Clin Invest 2000; 106: 963-971.
  • 10Lang D, Epstein JA. Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet 2003; 12:937-945.

共引文献16

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部