Montalto Massimo, D'Onofrio Ferruccio, Santoro Luca, Gallo Antonella, Gasbarrini Antonio, Gasbarrini Giovanni
Institute of Internal Medicine, Catholic University, Rome, Italy.
Scand J Gastroenterol. 2009;44(9):1029-36. doi: 10.1080/00365520902783691.
Autoimmune enteropathy is a rare disorder characterized by severe and protracted diarrhea, weight loss from malabsorption and immune-mediated damage to the intestinal mucosa, generally occurring in infants and young children, although some cases of adult onset have been reported in the literature. Pathogenetic mechanisms involve immunological disorders, in which the presence of antienterocyte autoantibodies, although detected since first description, seems now to be secondary. As occurs frequently in autoimmunity, subjects with autoimmune enteropathy may be affected by other autoimmune disorders, sometimes leading to particular forms, i.e. the IPEX syndrome and the APECED syndrome. The prognosis of autoimmune enteropathy patients depends on the severity of digestive symptoms (including fecal output), on the severity and extension of histological lesions along the gastrointestinal apparatus, and on the presence of extra-intestinal involvement. Management of autoimmune enteropathy patients is based on nutritional support and adequate hydration to ensure optimal growth and development, together with immunosuppressive therapy. Recently, biological agents have been introduced, with apparent beneficial effects.
自身免疫性肠病是一种罕见的疾病，其特征为严重且迁延不愈的腹泻、因吸收不良导致的体重减轻以及免疫介导的肠黏膜损伤，通常发生于婴幼儿，不过文献中也报道了一些成人发病的病例。发病机制涉及免疫紊乱，其中抗肠上皮细胞自身抗体的存在虽然自首次描述以来就已被检测到，但现在看来是继发性的。正如自身免疫性疾病中常见的那样，自身免疫性肠病患者可能会受到其他自身免疫性疾病的影响，有时会导致特殊形式，即免疫失调多内分泌病肠病X连锁综合征（IPEX综合征）和自身免疫性多内分泌腺病-念珠菌病-外胚层营养不良综合征（APECED综合征）。自身免疫性肠病患者的预后取决于消化症状的严重程度（包括粪便排出量）、胃肠道组织学病变的严重程度和范围，以及是否存在肠外受累情况。自身免疫性肠病患者的治疗基于营养支持和充分补液以确保最佳生长发育，同时进行免疫抑制治疗。最近，生物制剂已被引入，且有明显的有益效果。
