Sutthatarn Pattamon, Lapidus-Krol Eveline, Smith Caitlin, Halaweish Ihab, Rialon Kristy, Ralls Matthew W, Rentea Rebecca M, Madonna Mary B, Haddock Candace, Rocca Ana M, Gosain Ankush, Frischer Jason, Piper Hannah, Goldstein Allan M, Saadai Payam, Durham Megan M, Dickie Belinda, Jafri Mubeen, Langer Jacob C
Division of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, ON, Canada; Department of Surgery, University of Toronto, Toronto, ON, Canada; Department of Surgery, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
Division of General and Thoracic Surgery, The Hospital for Sick Children, Toronto, ON, Canada; Department of Surgery, University of Toronto, Toronto, ON, Canada.
J Pediatr Surg. 2023 May;58(5):856-861. doi: 10.1016/j.jpedsurg.2023.01.018. Epub 2023 Jan 24.
BACKGROUND/PURPOSE: A small number of Hirschsprung disease (HD) patients develop inflammatory bowel disease (IBD)-like symptoms after pullthrough surgery. The etiology and pathophysiology of Hirschsprung-associated IBD (HD-IBD) remains unknown. This study aims to further characterize HD-IBD, to identify potential risk factors and to evaluate response to treatment in a large group of patients.
Retrospective study of patients diagnosed with IBD after pullthrough surgery between 2000 and 2021 at 17 institutions. Data regarding clinical presentation and course of HD and IBD were reviewed. Effectiveness of medical therapy for IBD was recorded using a Likert scale.
There were 55 patients (78% male). 50% (n = 28) had long segment disease. Hirschsprung-associated enterocolitis (HAEC) was reported in 68% (n = 36). Ten patients (18%) had Trisomy 21. IBD was diagnosed after age 5 in 63% (n = 34). IBD presentation consisted of colonic or small bowel inflammation resembling IBD in 69% (n = 38), unexplained or persistent fistula in 18% (n = 10) and unexplained HAEC >5 years old or unresponsive to standard treatment in 13% (n = 7). Biological agents were the most effective (80%) medications. A third of patients required a surgical procedure for IBD.
More than half of the patients were diagnosed with HD-IBD after 5 years old. Long segment disease, HAEC after pull through operation and trisomy 21 may represent risk factors for this condition. Investigation for possible IBD should be considered in children with unexplained fistulae, HAEC beyond the age of 5 or unresponsive to standard therapy, and symptoms suggestive of IBD. Biological agents were the most effective medical treatment.
Level 4.
背景/目的：一小部分先天性巨结肠病（HD）患者在拖出式手术后会出现类似炎症性肠病（IBD）的症状。先天性巨结肠相关IBD（HD-IBD）的病因和病理生理学尚不清楚。本研究旨在进一步描述HD-IBD的特征，识别潜在危险因素，并评估一大群患者的治疗反应。
对2000年至2021年期间在17家机构接受拖出式手术后被诊断为IBD的患者进行回顾性研究。回顾了有关HD和IBD临床表现及病程的数据。使用李克特量表记录IBD药物治疗的有效性。
共有55例患者（78%为男性）。50%（n = 28）患有长段型疾病。68%（n = 36）报告有先天性巨结肠相关小肠结肠炎（HAEC）。10例患者（18%）患有21三体综合征。63%（n = 34）的患者在5岁以后被诊断为IBD。IBD的表现包括69%（n = 38）的结肠或小肠炎症类似IBD，18%（n = 10）的不明原因或持续性瘘管，以及13%（n = 7）的5岁以上不明原因HAEC或对标准治疗无反应。生物制剂是最有效的（80%）药物。三分之一的患者因IBD需要进行手术。
超过一半的患者在5岁以后被诊断为HD-IBD。长段型疾病、拖出式手术后的HAEC和21三体综合征可能是这种疾病的危险因素。对于有不明原因瘘管、5岁以上HAEC或对标准治疗无反应以及有IBD提示症状的儿童，应考虑进行可能的IBD检查。生物制剂是最有效的药物治疗方法。
4级。
