A Pattern-based Pathology Approach to Very Early-onset Inflammatory Bowel Disease: Thinking Beyond Crohn Disease and Ulcerative Colitis.
A Pattern-based Pathology Approach to Very Early-onset Inflammatory Bowel Disease: Thinking Beyond Crohn Disease and Ulcerative Colitis.
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DOI：
10.1097/pap.0000000000000327
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发表时间：
2022-01-01
影响因子：
6.7
通讯作者：
Conrad MA
中科院分区：
文献类型：
--
作者：
Wilkins BJ;Kelsen JR;Conrad MA
非常早发性炎症性肠病（VEO-IBD），即诊断于6岁以下儿童的IBD，在表型和基因上不同于早发性IBD。单基因和遗传性致病缺陷，特别是原发性免疫缺陷和肠上皮屏障基因，已经在VEO-IBD患者的一个亚群中被发现，允许靶向治疗和改善结果。然而，这些发现是少数，因此正确诊断患者的策略，包括识别与临床和实验室特征相关的特定组织病理学发现，可能为疾病发病机制和随后的治疗选择提供关键和必要的见解。在这篇文章中，我们回顾了VEO-IBD患者的病理表现，并概述了一种基于模式的诊断方法，以胃肠道表现的原发性免疫缺陷为例。
Very early onset inflammatory bowel disease (VEO-IBD), IBD diagnosed in children less than 6 years old, is phenotypically and genetically distinct from older onset IBD. Monogenic and digenic causative defects, particularly in primary immunodeficiency and intestinal epithelial barrier genes, have been identified in a subset of patients with VEO-IBD allowing for targeted therapies and improved outcomes. However, these findings are the minority, thus strategies to correctly diagnose patients, including identification of specific histopathologic findings with correlating clinical and laboratory features may provide critical and necessary insight into mechanisms of disease pathogenesis and subsequent therapeutic options. In this article, we review the pathologic findings seen in patients with VEO-IBD and outline a pattern-based approach to diagnosis using examples from primary immunodeficiencies with gastrointestinal manifestations.