天津医药
天津醫藥
천진의약
TIANJIN MEDICAL JOURNAL
2014年
6期
591-594
,共4页
肛门闭锁%胶质细胞源性神经营养因子类%胶质细胞源性神经营养因子受体%原癌基因蛋白质c-ret%免疫组织化学%逆转录聚合酶链反应
肛門閉鎖%膠質細胞源性神經營養因子類%膠質細胞源性神經營養因子受體%原癌基因蛋白質c-ret%免疫組織化學%逆轉錄聚閤酶鏈反應
항문폐쇄%효질세포원성신경영양인자류%효질세포원성신경영양인자수체%원암기인단백질c-ret%면역조직화학%역전록취합매련반응
anus imperforate%glial cell line-derived neurotrophic factors%glial cell line-derived neurotrophic factor receptors%proto-oncogene proteins c-ret%immunohistochemistry%reverse transcriptase polymerase chain reaction
目的：探讨神经胶质细胞源性的神经营养因子（GDNF）、其受体GFRα1和原癌基因RET在先天性直肠肛门畸形肠壁组织中的表达及意义。方法收集经手术治疗的直肠肛门畸形患者12例，男8例，女4例，年龄3 d~2岁，高位无肛2例，中位无肛4例，低位无肛6例。采用免疫组织化学和逆转录聚合酶链反应（RT-PCR）分别检测12例患儿肠壁盲端组织和距离盲端3 cm处的组织标本中RET、GDNF和GFRα1的表达。结果高、中、低位无肛患儿盲端标本中均缺乏神经节细胞，且RET、GDNF和GFRα1在盲端中均未见表达；距离盲端3 cm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、低位无肛组织中呈棕褐色为强阳性，而高位无肛呈淡黄色和棕黄色为弱阳性或者阳性；术后功能随访，高位无肛中1例出现污粪，1例出现稀便不能控制，无肛门失禁情况。中、低位无肛中有1例出现直肠黏膜脱出，经坐浴肛门护理好转，1例出现排气时偶有污便，其余8例术后排便功能未见异常。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。
目的：探討神經膠質細胞源性的神經營養因子（GDNF）、其受體GFRα1和原癌基因RET在先天性直腸肛門畸形腸壁組織中的錶達及意義。方法收集經手術治療的直腸肛門畸形患者12例，男8例，女4例，年齡3 d~2歲，高位無肛2例，中位無肛4例，低位無肛6例。採用免疫組織化學和逆轉錄聚閤酶鏈反應（RT-PCR）分彆檢測12例患兒腸壁盲耑組織和距離盲耑3 cm處的組織標本中RET、GDNF和GFRα1的錶達。結果高、中、低位無肛患兒盲耑標本中均缺乏神經節細胞，且RET、GDNF和GFRα1在盲耑中均未見錶達；距離盲耑3 cm處，高、中、低位無肛組織中有神經節細胞，存在RET、GDNF和GFRα1的錶達，中、低位無肛組織中呈棕褐色為彊暘性，而高位無肛呈淡黃色和棕黃色為弱暘性或者暘性；術後功能隨訪，高位無肛中1例齣現汙糞，1例齣現稀便不能控製，無肛門失禁情況。中、低位無肛中有1例齣現直腸黏膜脫齣，經坐浴肛門護理好轉，1例齣現排氣時偶有汙便，其餘8例術後排便功能未見異常。結論先天性直腸肛門畸形患兒的直腸末耑中神經營養因子GDNF、GFRα1和RET的低錶達可能與直腸肛門畸形術後排便功能不良關繫密切。
목적：탐토신경효질세포원성적신경영양인자（GDNF）、기수체GFRα1화원암기인RET재선천성직장항문기형장벽조직중적표체급의의。방법수집경수술치료적직장항문기형환자12례，남8례，녀4례，년령3 d~2세，고위무항2례，중위무항4례，저위무항6례。채용면역조직화학화역전록취합매련반응（RT-PCR）분별검측12례환인장벽맹단조직화거리맹단3 cm처적조직표본중RET、GDNF화GFRα1적표체。결과고、중、저위무항환인맹단표본중균결핍신경절세포，차RET、GDNF화GFRα1재맹단중균미견표체；거리맹단3 cm처，고、중、저위무항조직중유신경절세포，존재RET、GDNF화GFRα1적표체，중、저위무항조직중정종갈색위강양성，이고위무항정담황색화종황색위약양성혹자양성；술후공능수방，고위무항중1례출현오분，1례출현희편불능공제，무항문실금정황。중、저위무항중유1례출현직장점막탈출，경좌욕항문호리호전，1례출현배기시우유오편，기여8례술후배편공능미견이상。결론선천성직장항문기형환인적직장말단중신경영양인자GDNF、GFRα1화RET적저표체가능여직장항문기형술후배편공능불량관계밀절。
Objective To evaluate the significance and expression of the GDNF/GFRα1/RET genes in distal rectum with Congenital Anorectal Malformations(ARMs) Methods Specimens were collected from resected colon which is 3 cm away to the anus and the distal of rectum in 12 ARMs patients. Haematoxylin and Eosin (HE) staining, immunohistochemical (IHC) staining and reverse transcription PCR (RT-PCR) were used to test RET, GDNF and GFRα1 expression in the differ-ent site of samples with ARMs. Results Expression of ganglia and RET, GDNF and GFRα1 were all negative in distal rec-tum in 12 ARMs patients. Ganglionic cells were found in tissues 3 cm away from the anus where RET, GDNF and GFRα1 expression were also positive in those ARMs patients. Expression of RET, GDNF and GFRα1 were strong positive in middle and low imperforate anus indicated by brown color and week positive in high imperforate anus indicated by yellow color. One case of faeces contamination and one case of loose motion without anal incontinence were found in post-op follow up of high ARMs patients. By contrast, one case of rectal mucosa prolapse and one case of occasional faeces contamination which recov-ered with hip bath were found in post op follow up in middle or low ARMs. Conclusion The unsatisfactory anorectal func-tion is possibly related to the decrease or lost of neurotrophic factors (GDNF/GFRα1/RET) and ganglia in the myenteric plex-uses post plastic surgery in ARMs patients.
