先天性巨结肠及其同源病诊断热点讨论  

Controversies concerning diagnostic guidelines for Hirschsprung＇ s disease and allied disorders

作　　者：向磊[1] 李娜萍[2] 武海燕 余雷[4] 朱天琦[1] 冯杰雄[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院小儿外科,武汉430030 [2]华中科技大学同济医学院附属同济医院病理科,武汉430030 [3]南京医学大学附属南京儿童医院病理科,210008 [4]武汉市儿童医院新生儿外科,430016

出　　处：《中华小儿外科杂志》2016年第4期248-252,共5页Chinese Journal of Pediatric Surgery

基　　金：国家自然科学基金（81270441）

摘　　要：目的探讨先天性巨结肠及其同源病定义、病理诊断方法及标准。方法记录2015年10月在武汉同济医院小儿外科召开的先天性巨结肠（Hirschsprung＇s disease，HD）及其同源病临床与病理国际高峰论坛峰会病理分会中的热点问题及展开的深入讨论，并进行归纳总结。结果直肠黏膜活检AchE染色被一致认可为术前诊断的金标准。巨结肠切除术中活检是必需的，但染色方法的选择未有统一。作为传统方法，单纯HE染色的精确性受到了质疑，普遍认为需要同时进行其他染色，而具体染色方法因各自习惯而异。目前缺乏大样本的正常新生儿和儿童肠道发育各项数据，因此对于神经节细胞减少症，神经元发育不良的诊断标准尚有争论。肠神经元发育不良（intestinal neuronal dysplasia，IND）是不是一种疾病实体，是原发性还是继发性疾病未有定论。病理发现的各类非神经节病变目前还不清楚应该如何定义和归类，因此更要求病理专家应对其作出详尽描述。结论国内外对巨结肠及其同源病在定义、病理诊断方法及标准上有一定共识，但部分争论热点由于缺乏理论和实践数据支撑而未有统一结论，而这些热点必将成为将来研究的新方向。Objective To study the agreement and disagreement in definition, standard or method of diagnosis of Hirschsprung＇s disease （HD） and Allied disorders of Hirschsprung disease （HAD）. Methods Recorded the as discussed at the workshop of the International Summit Forum of Hirschsprungs disease and its Allied Diseases, Wuhan, China. Results AchE stain of rectal suction biopsy has been recognized as the gold standard for preoperative diagnosis of HD. Adequate fullthickness intraoperative biopsy was considered to be necessary during surgery of IDs, but the choice of histologic staining method was not uniform. As a traditional dyeing, the reliability of HE has been questioned, it is generally believed that it is necessary to carry out other dyeing to be diagnosed at the same time, and the specific method is different from each other. At present, there is a lack of data on intestinal development of normal children in large samples. Therefore, there is an argument about the diagnostic criteria of Hypoganglionosis and Intestinal Neuronal Dysplasia. Whether IND is a disease entity, is the primary or secondary disease are also the hot spots of controversy. Pathological findings of various types of non ganglion lesions are not yet know how to define and classify. Therefore, we need do a more detailed description for all that undefined pathological variation. Conclusions There are some consensus about definition, standard or method of diagnosis of HD and Allied disorders of Hirschsprnng disease （HAD） domestic and overseas, while part of hot debates which are lack of correct summary of experiences and theoretical data support have no unified conclusion, and these hot spots will become the new direction of the future research.

关 键 词：先天性巨结肠 肠神经元发育不良 诊断 

分 类 号：R726.5[医药卫生—儿科]