Institute of Gastroenterology, Nutrition and Liver Diseases, Schneider Children's Medical Center of Israel, Petach Tikva, Tel-Aviv University, Tel-Aviv, Israel.
Pediatric and Gastroenterology Unit, Sapienza University of Rome-Umberto I Hospital, Rome, Italy.
Pediatrics. 2024 Aug 1;154(2). doi: 10.1542/peds.2023-064546.
This study described disease characteristics and long-term outcomes in patients diagnosed with very early onset inflammatory bowel disease (VEOIBD) (diagnosed before 6 years of age) and infantile-IBD (before 2 years).
Cases from 21 centers worldwide diagnosed with VEOIBD (2008-2018), with minimum 2 years of follow-up, were retrospectively reviewed.
The cohort included 243 patients (52% males, median follow-up of 5.8 [range 2-18] years, including 69 [28%]) with infantile-IBD. IBD subtypes included Crohn's disease (CD), ulcerative colitis (UC), or IBD-unclassified (IBDU) in 30%, 59%, and 11%, respectively. Among patients with CD, 94% had colonic involvement, and among patients with UC/IBDU, 75% had pancolitis. Patients with infantile-IBD presented with higher rates of IBDU, lower hemoglobin and albumin levels, and higher C-reactive protein, and had lower response rates to first-induction therapy and corticosteroids therapy (P < .05 for all). Colectomy and diversion surgeries were performed in 11% and 4%, respectively, with no significant differences between age groups. Corticosteroid-free remission rates were 74% and 78% after 3 and 5 years, respectively, and 86% at end of follow-up. Genetic testing was performed in 96 (40%) patients. Among tested population, 15 (16%) were identified with monogenic disease. This group demonstrated lower response rates to induction therapies, higher rates of surgical intervention, and higher rates of major infections (P < .05 for all).
Patients with VEOIBD, including infantile-IBD, exhibit low rate of complications and surgical interventions at the long term. Patients with monogenic IBD are at risk for more severe disease course.
本研究描述了非常早发性炎症性肠病（VEOIBD）（6 岁前诊断）和婴儿期-IBD（2 岁前）患者的疾病特征和长期预后。
回顾性分析了来自全球 21 个中心的 VEOIBD（2008-2018 年）病例，这些患者有至少 2 年的随访。
该队列包括 243 名患者（52%为男性，中位随访时间为 5.8[范围 2-18]年，包括 69 名[28%]）患有婴儿期-IBD。IBD 亚型包括克罗恩病（CD）、溃疡性结肠炎（UC）或 IBD 未分类（IBDU），分别占 30%、59%和 11%。CD 患者中有 94%有结肠受累，UC/IBDU 患者中有 75%有全结肠炎。患有婴儿期-IBD 的患者 IBDU 发生率较高，血红蛋白和白蛋白水平较低，C 反应蛋白较高，且对首次诱导治疗和皮质类固醇治疗的反应率较低（所有 P<0.05）。分别有 11%和 4%的患者进行了结肠切除术和转流手术，但在不同年龄组之间无显著差异。3 年和 5 年后无皮质类固醇缓解率分别为 74%和 78%，随访结束时为 86%。对 96 名（40%）患者进行了基因检测。在检测人群中，有 15 名（16%）被诊断为单基因疾病。该组对诱导治疗的反应率较低，手术干预率较高，严重感染率较高（所有 P<0.05）。
VEOIBD 患者，包括婴儿期-IBD，长期并发症和手术干预率较低。患有单基因 IBD 的患者疾病病程更严重。
