肠神经节发育异常症研究进展

Advance in intestinal dysganglionosis

肠神经节发育异常症是小儿慢性便秘常见的器质性疾病,包括最常见的先天性巨结肠及巨结肠类缘病,如神经节减少症、神经节瘤病、神经元性发育异常症、神经节未成熟症、肛门内括约肌失弛缓和大膀胱小结肠蠕动低下综合征。先天性巨结肠病变肠壁无神经节细胞,巨结肠类缘病临床症状相似于先天性巨结肠,但肠壁存在神经节细胞,神经节细胞数量、质量有变化。诊断及鉴别诊断主要根据病理组织学。直肠黏膜吸引活检是目前诊断肠神经节发育异常症的常用方法和金标准。钙视网膜蛋白已取代乙酰胆碱酯酶用于直肠黏膜活检的病理诊断。

Intestinal dysganglionosis is the common cause for the pediatric chronic constipation which includes the congenital Hirschsprung disease and Hirschsprung allied diseases,such as hypoganglionosis,ganglioneuromatosis,and intestinal neuronal dysplasia,neuronal immaturation,internal anal sphincter achalasia and megacystis microcolon intestinal hypoperistalsis syndrome.In Hirschsprung disease,ganglions cells are absent in rectal suction biopsy;while in Hirschsprung allied diseases,ganglion cells are present with the different number and quality.The diagnosis and differentiation are mainly based on pathologic histology.At present,the rectal suction biopsy,as golden standard,is commonly used in diagnosis for intestinal dysganglionosis.And acetylcholinesterase has already been replaced by calretinin in the process.