Department of Pediatric Gastroenterology, Hepatology and Nutrition, MacKay Children's Hospital, Taipei.
Department of Medicine, MacKay Medical College, New Taipei City.
Medicine (Baltimore). 2021 May 28;100(21):e25868. doi: 10.1097/MD.0000000000025868.
Infantile inflammatory bowel disease (IBD) is an extremely rare subgroup of IBD that includes patients whose age of onset is younger than 2 years old. These patients can have more surgical interventions, and a severe and refractory disease course with higher rates of conventional treatment failure. Monogenic defects play an important role in this subgroup of IBD, and identification of the underlying defect can guide the therapeutic approach.
In 2007, a 4-month-old girl from a nonconsanguineous family presenting with anal fistula, chronic diarrhea, and failure to thrive. She underwent multiple surgical repairs but continued to have persistent colitis and perianal fistulas.
Crohn's disease was confirmed by endoscopic and histologic finding.
Conventional pediatric IBD therapy including multiple surgical interventions and antitumor necrosis factor alpha agents were applied.
The patient did not respond to conventional pediatric IBD therapy. Interleukin-10 (IL-10) receptor mutation was discovered by whole-exome sequencing and defective IL-10 signaling was proved by functional test of IL-10 signaling pathway by the age of 12. The patient is currently awaiting hematopoietic stem cell transplantation.
Early detection of underlying genetic causes of patients with infantile-IBD is crucial, since it may prevent patients from undergoing unnecessary surgeries and adverse effects from ineffective medical therapies. Moreover, infantile-IBD patients with complex perianal disease, intractable early onset enterocolitis and extraintestinal manifestations including oral ulcers and skin folliculitis, should undergo genetic and functional testing for IL-10 pathway defect.
婴儿炎症性肠病（IBD）是一种极其罕见的 IBD 亚组，其发病年龄小于 2 岁。这些患者可能需要更多的手术干预，疾病的严重程度和难治性更高，常规治疗失败的比例也更高。单基因缺陷在这一 IBD 亚组中起着重要作用，确定潜在缺陷可以指导治疗方法。
2007 年，一名来自非近亲家庭的 4 月龄女婴，表现为肛瘘、慢性腹泻和生长不良。她接受了多次手术修复，但仍持续存在结肠炎和肛周瘘。
通过内镜和组织学发现确诊为克罗恩病。
应用常规儿科 IBD 治疗，包括多次手术干预和抗肿瘤坏死因子-α 药物。
患儿对常规儿科 IBD 治疗无反应。通过全外显子组测序发现白细胞介素-10（IL-10）受体突变，并在 12 岁时通过 IL-10 信号通路功能试验证实 IL-10 信号缺陷。目前患者正在等待造血干细胞移植。
早期发现婴儿 IBD 患者的潜在遗传原因至关重要，因为这可以避免患者接受不必要的手术和无效药物治疗的不良影响。此外，患有复杂肛周疾病、难治性早发性结肠炎和口腔溃疡和皮肤滤泡炎等肠外表现的婴儿 IBD 患者，应进行 IL-10 通路缺陷的遗传和功能检测。
