先天性肠闭锁合并巨结肠四例并文献复习

Intestinal atresia complicated with Hirschsprung's disease:a report of 4 cases and literature review

目的探讨先天性肠闭锁合并巨结肠的诊治经验。方法回顾性分析首都医科大学附属北京儿童医院2007年6月至2019年6月收治的4例肠闭锁合并巨结肠患儿的临床资料。本组均于生后3 d内因肠梗阻行剖腹探查,分别证实为结肠闭锁、回肠闭锁、空肠闭锁和回肠闭锁。3例肠闭锁术后复发肠梗阻入院,1例肠闭锁关瘘后出现肠穿孔行肠造瘘手术。文献复习以"先天性肠闭锁(intestinal atresia,IA)"和"巨结肠(Hirschsprung's disease,HD)"为中英文关键词,检索PubMed、Web of Science、Medline、中国知网和万方数据库截至2019年6月关于IA合并HD的文献,对闭锁肠段及分型、诊治和预后进行分析。结果4例肠闭锁术后行下消化道造影(瘘管造影)均提示远端结肠异常,均再次行手术治疗。例1术中发现远端结肠痉挛细小,冰冻病理检查证实为全结肠型巨结肠,行经腹经肛门Soave手术,术后鼻饲肠内营养辅助治疗;例2术中发现肠管粘连严重,吻合口狭窄,冰冻病理检查证实为全结肠型巨结肠,放弃根治手术,重新修复吻合口,术后出现败血症,放弃治疗后死亡;例3术中发现明显扩张段结肠,行经腹经肛门Soave手术,切除肠管病理符合短段型巨结肠,术后排便功能良好;例4肠造瘘术后行直肠黏膜活检提示齿状线上3 cm肠管无神经节细胞,行经肛门Soave手术,切除肠管病理符合短段型巨结肠,术后恢复排便功能。文献检索到相关文献35篇,结合本中心4例,共47例IA合并HD患儿。肠闭锁最常见于回肠(16例)、升结肠(11例)和横结肠(9例),最主要的闭锁类型为Ⅲ型22例。所有患儿IA术前均未诊断合并HD。22例行一期肠切除肠吻合术,因术后病理诊断合并HD或复发肠梗阻后行多次手术,平均手术次数3(2,4)次。20例行肠切除(肠吻合)+肠造瘘术,9例关瘘前诊断合并HD,平均手术次数(2.4±1.1)次;余者因关瘘后出现肠梗阻或其他并发症行多次手术,平均手术次数4(3,4.5)次。结论术前下消化道造影、术中探查闭锁远端肠管对辅助诊断IA合并HD尤为重要,直肠黏膜活检、术中冰冻活检和术后病理检查可明确诊断。根据闭锁类型及无神经节细胞累及范围选择合适的手术方式,精确切除病变肠段可有效改善预后。

Objective To explore the diagnosis and treatment of intestinal atresia(IA)associated with Hirschsprung's disease(HD).Methods From June 2007 to June 2019,clinical data were retrospectively reviewed for 4 cases with IA complicated with HD.All cases underwent laparotomy within 3 days of birth due to intestinal obstruction.They were confirmed intraoperatively as colonic atresia,ileal atresia,jejunal atresia and ileal atresia respectively.However,3 children were re-admitted due to a recurrence of intestinal obstruction after operation for IA while another one underwent enterostomy after postoperative intestinal perforation.In the literature review,"intestinal atresia"complicated with"Hirschsprung's disease"was adopted as key words for searching the databases of PubMed,Web of Science,Medline,CNKI and Wanfang data until June 2019.Results Four cases were diagnosed as distal colonic abnormality by gastroenterography before re-operation.Case 1 had a spasmodic and small distal colon and was confirmed as total colonic aganglionosis by intraoperative pathology.And excellent growth occurred after laparotomic Soave procedure plus nasal feeding of enteral nutrient solution.Severe intestinal adhesion and intestinal anastomotic stenosis were detected in case 2.After a definite intraoperative diagnosis of total colonic aganglionosis,death occurred due to sepsis after anastomosis repairing.Case 3 was consistent with short-segment HD because of a dilation of distal colon.After laparotomic Soave procedure,bowel function recovered.Rectal mucosal biopsy in case 4 after enterostomy indicated that ganglion cells were absent at 3 cm above dentate line.Thus transanal Soave surgery was repeated.A total of 35 literature reports were retrieved and 47 cases of IA complicated with HD included.Intestinal atresia was present in ileum(n=16),ascending colon(n=11)and transverse colon(n=9).None of them was diagnosed as HD before an initial operation.Twenty-two cases underwent one-stage intestinal resection and anastomosis and multiple operations were performed after a definite diagnosis of HD by postoperative pathological diagnosis or recurrent intestinal obstruction.The average number of operations was 3(2-4).And 20 cases underwent intestinal resection with or without anastomosis and enterostomy.Among them,9 cases were diagnosed as HD before fistula closure with an average number of 2.4±1.1 operations.Multiple operations were performed due to postoperative complications such as intestinal obstruction with an average number of 4(3,4.5)operations.Conclusions Preoperative lower gastroenterography and intraoperative exploration for distal intestinal atresia are vital for diagnosing IA associated with HD.A definite diagnosis may be made on the basis of rectal mucosal biopsy,intraoperative frozen biopsy and postoperative pathology.Optimal surgical approaches should be selected according to the type of atresia and the range of aganglionosis.Accurate resection of affected bowel improves the prognosis.