Usami Masaaki, Takeuchi Ichiro, Kyodo Reiko, Hirano Yuri, Kashiwagi Kosuke, Fujikawa Hiroki, Shimizu Hirotaka, Kawai Toshinao, Arai Katsuhiro
Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan.
Division of Immunology, National Center for Child Health and Development, Tokyo, Japan.
Intest Res. 2022 Oct;20(4):475-481. doi: 10.5217/ir.2021.00142. Epub 2022 Jun 13.
BACKGROUND/AIMS: Very early-onset inflammatory bowel disease (VEO-IBD), defined as IBD diagnosed in patients younger than 6 years, is a challenge for pediatric gastroenterologists. Although there have been reports regarding VEO-IBD in Western countries, those in Asia are still lacking. This study aimed to investigate the clinical features of Japanese VEO-IBD patients.
Patients with VEO-IBD diagnosed between 2006 and 2019 were evaluated retrospectively. The disease phenotypes were classified into ulcerative colitis type (UC-type) and Crohn's disease type (CD-type), and the clinical features and courses were compared between the phenotypes.
Overall, 54 VEO-IBD patients (19 patients with UC-type and 35 patients with CD-type) were evaluated. The median age at onset was 18 months. One patient had severe combined immunodeficiency (SCID), and 9 patients had monogenic IBD. Monogenic IBD was more prevalent in the CD-type patients with perianal disease (CD-type (PD)). The age at onset was significantly lower in the CD-type group (P<0.05). The most common initial symptom was bloody stools (70%), followed by diarrhea (63%), weight loss (24%), fever (20%), and perianal disease (20%). Excluding patients with SCID and monogenic IBD, 23 out of 44 patients (52%) required biologics. The biologics were switched in 11 out of 44 patients (25%), and the majority of these patients (82%) were in the CD-type group. Overall, 9 patients (20%) required intestinal resection or ostomy placement.
CD-type tends to occur at an earlier age, and monogenic IBD occurs significantly more frequently in CD-type (PD). Disease severity and treatment should be individualized, owing to the disease heterogeneity.
背景/目的：极早发型炎症性肠病（VEO-IBD）定义为在6岁以下患者中诊断出的炎症性肠病，这对儿科胃肠病学家来说是一项挑战。尽管西方国家已有关于VEO-IBD的报道，但亚洲地区的报道仍很缺乏。本研究旨在调查日本VEO-IBD患者的临床特征。
对2006年至2019年间诊断为VEO-IBD的患者进行回顾性评估。疾病表型分为溃疡性结肠炎型（UC型）和克罗恩病型（CD型），并比较两种表型的临床特征和病程。
总体而言，共评估了54例VEO-IBD患者（19例UC型患者和35例CD型患者）。发病的中位年龄为18个月。1例患者患有严重联合免疫缺陷（SCID），9例患者患有单基因炎症性肠病。单基因炎症性肠病在伴有肛周疾病的CD型患者（CD型（PD））中更为普遍。CD型组的发病年龄显著更低（P<0.05）。最常见的初始症状是便血（70%），其次是腹泻（63%）、体重减轻（24%）、发热（20%）和肛周疾病（20%）。排除患有SCID和单基因炎症性肠病的患者后，44例患者中有23例（52%）需要使用生物制剂。44例患者中有11例（25%）更换了生物制剂，其中大多数患者（82%）属于CD型组。总体而言，9例患者（20%）需要进行肠道切除或造口术。
CD型往往发病年龄更早，单基因炎症性肠病在CD型（PD）中显著更常见。由于疾病的异质性，疾病严重程度和治疗应个体化。
