Comprehensive insights into pathogenesis, diagnosis, treatment, and prognosis in adult autoimmune enteropathy.

IF 3.4 2区医学 Q2 GENETICS & HEREDITY

Orphanet Journal of Rare Diseases Pub Date : 2025-05-02 DOI:10.1186/s13023-025-03731-2

Muhan Li, Tianming Xu, Gechong Ruan, Chengzhu Ou, Bei Tan, Shengyu Zhang, Xiaoqing Li, Yan You, Weixun Zhou, Ji Li, Jingnan Li

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引用次数: 0

Abstract

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.

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成人自身免疫性肠病的发病机制、诊断、治疗和预后的综合见解。

自身免疫性肠病（AIE）是一种以免疫失调和胃肠道表现为特征的多种疾病，主要是慢性腹泻。由于报道的队列数量较少，与儿童或综合征型AIE相比，目前对成人发病AIE的认识和理解较少。发病机制可能涉及遗传易感性、异常免疫稳态、自身免疫性疾病的合并症和环境触发。诊断依赖于包括临床评估、实验室检查、内窥镜检查结果和组织病理学特征在内的综合评估，然而将AIE与其他具有类似表现的疾病区分开来是诊断上的挑战。治疗策略主要集中在免疫抑制疗法，在个体中表现出不同的疗效。支持性治疗以及并发症的预防和管理对预后也很重要。未来的研究前景需要进一步探讨其遗传和免疫学机制、诊断方式和治疗策略，以改善患者的预后。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Orphanet Journal of Rare Diseases 医学-医学：研究与实验

CiteScore

6.30

自引率

8.10%

发文量

418

审稿时长

4-8 weeks

期刊介绍： Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.