肛门直肠畸形合并先天性巨结肠的诊治

The diagnosis and treatment of anorectal malformation associated with Hirschsprung＇s disease

目的总结儿童先天性肛门直肠畸形（ARM）合并先天性巨结肠（HD）的临床特点，探讨其病因和适宜的诊治方法。方法回顾性分析2004年1月至2008年4月6例ARM合并HD患儿的临床资料、诊治过程及预后情况。年龄1岁8个月～11岁，平均4．1岁；男女比例1：5。所有病例于ARM矫正手术后有不同程度便秘、腹胀等症状，钡灌肠显示结直肠均有显著的扩张，仅有2例可见明确痉挛段和移行段。6例患儿直肠肛管测压直肠肛门抑制反射不能引出。2例采用经肛门Soave术式，4例采用经腹肛门Soave巨结肠根治术。结果术后病理检查6例标本远端肠壁内均未见神经节细胞。免疫组化组织蛋白酶D：近段阳性，远端阴性。结论对于ARM患儿，特别是对于ARM畸形矫正术后仍有便秘的患儿要警惕合并HD的可能。此外，ARM合并HD患儿往往同时存在有多种畸形，在胚胎发育过程中这些畸形的发生可能存在着一定的关联。

Objective To analyze the clinical features of anorectal malformation （ARM） associated with Hirschsprung＇s disease（ HD） in children. Methods The clinical data of 6 cases with ARM association with HD from January 2004 to April 2008 in this institute were retrospectively analyzed. The age of patients ranged from 8 months to 11 years with the mean age of 4. 1 years, and the gender ratio of males to females was 1 ： 5. All patients still had symptoms of abdominal distention and constipation after anoplasty. Barium enema showed the existence of dilation of rectum in all cases, in which only 2 had a typical sign of spastic and transitional zones. Further anorectal manometries showed absence of anorectal inhibitory reflex in all cases. Four cases underwent the transabdominal Soave procedure, while the other 2 cases received the transanal Soave procedure. All patients were followed up for 2 months to 2 years. Results The aganglionosis was confirmed in the resected distal bowel by patho- logical diagnosis in all cases. Immunohistochemical staining for protease D in the proximal segments showed positive results while negative in the distal segments. All patients got excellent anal function. Conclusions In patients with ARM, especially in those who still had constipation after anoplasty, the possibility of associated with HD should be taken into consideration. The excellent results can be gained in those patients by Soave procedure.