Moran Christopher J
Harvard Medical School, Department of Pediatrics, 175 Cambridge St, Suite 567, Boston, MA 02114.
Semin Pediatr Surg. 2017 Dec;26(6):356-359. doi: 10.1053/j.sempedsurg.2017.10.004. Epub 2017 Oct 10.
Very early onset inflammatory bowel disease (VEO-IBD) represents a unique and growing subset of patients with inflammatory bowel disease (IBD). Some VEO-IBD patients present with immunodeficiency and possess loss of function genetic mutations involving immune pathways that cause their IBD. A search for Mendelian causes of IBD is likely most beneficial when the presentation involves extra-intestinal autoimmunity or involves intestinal histopathology that is atypical for IBD. While a subset of these young patients will have highly aggressive courses (and likely present with immunodeficiency), the majority of patients with VEO-IBD appear to have disease courses similar to that of their older counterparts. Most notably, many of these young children will require long courses of immunosuppression simply as a result of the profoundly early presentation-thus increasing their long-term risks of cancer and opportunistic infections.
极早发型炎症性肠病（VEO-IBD）是炎症性肠病（IBD）中一个独特且数量不断增加的患者亚群。一些VEO-IBD患者存在免疫缺陷，并且具有涉及免疫途径的功能丧失基因突变，这些突变导致了他们的IBD。当临床表现涉及肠外自身免疫或具有IBD非典型的肠道组织病理学特征时，寻找IBD的孟德尔病因可能最有益。虽然这些年轻患者中的一部分会有高度侵袭性的病程（并且可能表现为免疫缺陷），但大多数VEO-IBD患者的病程似乎与其年长的同行相似。最值得注意的是，许多这些幼儿仅仅由于发病极早就需要长期的免疫抑制治疗——从而增加了他们患癌症和机会性感染的长期风险。
