Miller Talya L, Lee Dale, Giefer Mathew, Wahbeh Ghassan, Suskind David L
Department of Pediatrics, Seattle Children's Hospital and University of Washington, 4800 Sandpoint Way NE, Seattle, WA, 98105, USA.
Dig Dis Sci. 2017 Aug;62(8):2196-2200. doi: 10.1007/s10620-017-4616-9. Epub 2017 May 27.
Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal tract caused by a dysregulated immune response to the fecal microbiota. Very early-onset inflammatory bowel disease (VEO-IBD) refers to a subgroup of pediatric patients with IBD diagnosed before 6 years of age. This subgroup is often characterized by increased severity, aggressive progression, strong family history of IBD, and often poor response to conventional treatments. Nutritional therapies have been utilized to treat IBD, but their role in VEO-IBD is unclear. Disease behavior in VEO-IBD is often different from disease in adolescents and adults, as it is often restricted to the colon and refractory to standard medical therapies. Up to 25% of VEO-IBD patients have an identified underlying immunodeficiency, which may impact response to therapy. While specific mutations in interleukin 10 (IL-10), the IL-10 receptor (IL-10R), and mutations in NCF2, XIAP, LRBA, and TTC7 have been identified in VEO-IBD, polymorphisms in these genes are also associated with increased risk of developing IBD in adolescence or adulthood. We describe two cases in which infants presenting with VEO-IBD achieved clinical remission using exclusive enteral nutrition, a formula-based diet which has been shown to induce remission in older children with active Crohn's disease.
炎症性肠病(IBD)是一种胃肠道慢性炎症性疾病,由对粪便微生物群的免疫反应失调引起。极早发型炎症性肠病(VEO-IBD)指在6岁前被诊断为IBD的儿科患者亚组。该亚组的特点通常是病情严重程度增加、进展迅速、IBD家族史强烈,且对传统治疗的反应往往较差。营养疗法已被用于治疗IBD,但其在VEO-IBD中的作用尚不清楚。VEO-IBD的疾病行为通常与青少年和成人的疾病不同,因为它通常局限于结肠,且对标准药物治疗无效。高达25%的VEO-IBD患者存在潜在的免疫缺陷,这可能会影响治疗反应。虽然在VEO-IBD中已发现白细胞介素10(IL-10)、IL-10受体(IL-10R)的特定突变以及NCF2、XIAP、LRBA和TTC7的突变,但这些基因的多态性也与青少年或成年期患IBD的风险增加有关。我们描述了两例VEO-IBD婴儿通过使用全肠内营养实现临床缓解的病例,全肠内营养是一种基于配方奶的饮食,已被证明可诱导患有活动性克罗恩病的大龄儿童缓解。