天津医药

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GDNF、GFRα1和RET在先天性直肠肛门畸形中的表达及意义

张辉1,詹江华2   

  1. 1. 天津医科大学研究生院
    2. 天津市儿童医院
  • 收稿日期:2013-11-05 修回日期:2014-04-17 出版日期:2014-06-15 发布日期:2014-06-15
  • 通讯作者: 詹江华

The clinical significant and expression of GDNF/ GFRα1/RET in the distal of rectum with congenital Imperforate anus.

1,jianghua zhan   

  • Received:2013-11-05 Revised:2014-04-17 Published:2014-06-15 Online:2014-06-15
  • Contact: jianghua zhan

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摘要： 目的 探讨神经营养因子GDNF、GFRα1和RET在先天性直肠肛门畸形肠壁组织中的表达及其临床意义。方法 收集2008年9月-2012年12月期间在天津市儿童医院诊治的直肠肛门畸形12例；采用免疫组织化学和逆转率-聚合酶链反应（RT-PCR）技术分别检测12例不同类型的直肠肛门畸形患儿的肠壁盲端组织和距离盲端3cm处的组织标本中RET、GDNF和GFRα1的表达，并比较其表达的差异性。结果 在12例病人中，男孩10例，女孩2例；年龄分布在3天-2岁之间；其中高位无肛2例，中位无肛4例，低位无肛6例。高、中、低位无肛患儿盲端标本中均缺乏神经节细胞表达，且RET、GDNF和GFRα1在盲端中都不表达；距离盲端3cm处，高、中、低位无肛组织中有神经节细胞，存在RET、GDNF和GFRα1的表达，中、低位无肛组织中的GDNF/ GFRα1/RET表达的量明显好于高位无肛；比较术后功能表达，高位无肛发生并发症明显高于中、低位无肛。免疫组化与RT-PCR表达结果趋于一致。结论 先天性直肠肛门畸形患儿的直肠末端中神经营养因子GDNF、GFRα1和RET的低表达可能与直肠肛门畸形术后排便功能不良关系密切。

关键词: 先天性直肠肛门畸形, 神经营养因子, 免疫组化, RT-PCR, 肛门功能

Abstract: Objective To evaluate the clinical significant and expression of the GDNF/ GFRα1/RET in the distal of rectum with congenital Imperforate anus (CIA). Methods Specimens were collected from resected colon in the 3 cm away to the anus and the distal of rectum with 12 CIA patients in Tianjin Children’s Hospital. Haematoxylin and eosin(HE) staining, immunohistochemical(IHC) staining and real-time quantitative(RT-PCR) methods were done in the different site of samples with CIA for RET, GDNF and GFRα1 expression. Results It was decreased for expression of ganglia and negative for expression of RET, GDNF and GFRα1 in the distal of rectum with 12 CIA patients. There were ganglionic cells in the 3cm away to the anus with 12 CIA patients. It was positive for expression of RET, GDNF and GFRα1 in the 3cm away to the anus with 12 CIA patients. middle and low imperforate anus were more expression than high imperforate anus in the expression of neurotrophic factors that had RET, GDNF and GFRα1. The former were more complications than the latter in terms of postoperative function recovery. Conclusions The unsatisfactory anorectal function is possible related to the decrease or lost of neurotrophic factors（GDNF/ GFRα1/RET） and ganglia in the myenteric plexuses.

Key words: Congenital Imperforate anus, Neurotrophic factors, RT-PCR, immunohistochemical, Function