Li Muhan, Xu Tianming, Ruan Gechong, Ou Chengzhu, Tan Bei, Zhang Shengyu, Li Xiaoqing, You Yan, Zhou Weixun, Li Ji, Li Jingnan
Department of Gastroenterology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Orphanet J Rare Dis. 2025 May 2;20(1):208. doi: 10.1186/s13023-025-03731-2.
Autoimmune enteropathy (AIE) constitutes a diverse array of disorders characterized by immune dysregulation and gastrointestinal manifestations, chiefly chronic diarrhea. Due to the small number of reported cohorts, the current knowledge and understanding of adult-onset AIE is rare compared with pediatric or syndromic AIE. Pathogenesis might involve genetic predisposition, aberrant immune homeostasis, comorbidities of autoimmune diseases and environmental trigger. Diagnosis relies on a comprehensive assessment encompassing clinical evaluation, laboratory tests, endoscopic findings and histopathological features, yet distinguishing AIE from other disorders with similar presentations poses diagnostic challenges. Treatment strategies predominantly center on immunosuppressive therapies, exhibiting varied efficacy among individuals. Supportive treatment and prevention and management of complications are also important for prognosis. The prospectives of future researches need to explore the genetic and immunological mechanism, the diagnostic modalities and the treatment strategies to improve patient outcomes.
自身免疫性肠病（AIE）是一系列以免疫失调和胃肠道表现为特征的疾病，主要表现为慢性腹泻。由于报告的队列数量较少，与儿童或综合征性AIE相比，目前对成人发病AIE的认识和了解很少。发病机制可能涉及遗传易感性、异常的免疫稳态、自身免疫性疾病的合并症和环境触发因素。诊断依赖于包括临床评估、实验室检查、内镜检查结果和组织病理学特征在内的综合评估，但将AIE与具有相似表现的其他疾病区分开来存在诊断挑战。治疗策略主要集中在免疫抑制治疗上，个体之间的疗效各不相同。支持性治疗以及并发症的预防和管理对预后也很重要。未来研究的前景需要探索遗传和免疫机制、诊断方法和治疗策略以改善患者预后。
