肛门直肠畸形合并先天性巨结肠3例及文献复习

Anorectal malformation associated with Hirschsprung s disease:a report of three cases and literature review.

目的先天性肛门直肠畸形合并先天性巨结肠临床上罕见,常易漏诊。本文对先天性肛门直肠畸形合并先天性巨结肠患者的临床特点、诊疗及预后进行总结,以期提高对此类疾病的认识。方法2003年9月至2019年10月,上海交通大学医学院附属新华医院共收治3例肛门直肠畸形合并巨结肠男性患者,均为无肛直肠会阴瘘;检索万方、维普、中国知网、Pubmed、Medline数据库截至2019年10月已发表的关于肛门直肠畸形合并先天性巨结肠的相关文献,并进行分析。结果本研究中3例均于出生后诊断为肛门直肠畸形,行肛门成形术(2~11 d),后因持续便秘,确诊合并先天性巨结肠,行经腹经肛门Soave手术时患者月龄17~36个月。术后随访2~11年,3例术后污粪症状曾持续数年,经饮食调整、排便训练等保守治疗后排便状况逐渐得到改善,目前排便控制能力良好。通过检索数据库,检索到21篇相关文献(共报道71例患者),联合本中心3例患者,共有74例患者纳入本次研究。其中男42例,女32例,年龄2天至28岁,41例发现合并其他系统畸形。42例生后行结肠造瘘术,21例(21/42,50%)于肛门成形术前诊断合并先天性巨结肠。53例(53/74,71.6%)行肛门成形术后持续出现腹胀、便秘等症状,平均保守治疗8个月后确诊合并先天性巨结肠。74例均行巨结肠根治手术,40例(40/74,54.1%)采用Soave术,18例(18/74,24.3%)采用Duhamel术,8例(8/74,10.8%)采用Swenson术,8例(8/74,10.8%)采用Rehbein术,术后病理结果均证实无神经节细胞。38例进行了随访,排便状况良好。结论对于先天性肛门直肠畸形患者,如术后出现便秘持续并加重且保守治疗无效时,应警惕合并先天性巨结肠的可能;以直肠黏膜活检为依据的病理学诊断依然是诊断的金标准。Soave根治术安全有效,可作为优选的手术方式。

Objective The association of anorectal malformation(ARM)with Hirschsprung s disease(HD)is rare so that a misdiagnosis is frequent in clinical practices.The objective was to improve understanding through its clinical diagnosis and treatment.Methods From September 2003 to October 2019,a total of 3 boys with perineal fistula ARM were associated with HD.More clinical cases were retrieved from the databases of Wanfang,Weipu,CNKI,PubMed and Medline up until October 2019.Results Three patients underwent Soave operations(17-36 month).The postoperative follow-up period was from 2 to 11 years.The postoperative incontinence symptoms persisted for several years.After such conservative measures as dietary adjustments and defecation training,defecation condition gradually improved and fecal control was decent.There were 42 boys and 32 girls.Associated syndromes were found in 41 children.Diverting enterostomy at birth was performed in 42 cases and 21(21/42,50%)were definitely diagnosed as ARM coexisting with HD before ARM correction.In 53(53/74,71.6%)cases,abdominal distension and constipation persisted after anal angioplasty.The average diagnostic time of HD was 8 months after conservative measures.All of them underwent radical megacolon operation(2 day-28 year).And 40 cases underwent Soave s pull-through(40/74,54.1%).Other procedures included Duhamel procedure(18/74,24.3%),Swenson s pull-through(8/74,10.8%)and Rehbein s pull-through(8/74,10.8%).Conclusion For postoperative children with ARM,the possibility of concomitant HD should be considered when constipation persists and worsens and conservative treatment is ineffective.Its pathological diagnosis is based upon rectal mucosal biopsy.Soave s operation is ideal for anorectal malformation associated with Hirschsprung s disease.