Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Cleveland Clinic Foundation, 9500 Euclid Ave, Cleveland, OH, 44195, USA.
The University of Jordan School of Medicine, Queen Rania St 212, Amman, Jordan.
Dig Dis Sci. 2020 Nov;65(11):3079-3090. doi: 10.1007/s10620-020-06540-8. Epub 2020 Aug 24.
Autoimmune enteropathy is an extremely rare condition characterized by an abnormal intestinal immune response which typically manifests within the first 6 months of life as severe, intractable diarrhea that does not respond to dietary modification. Affected individuals frequently present with other signs of autoimmunity. The diagnosis is made based on a characteristic combination of clinical symptoms, laboratory studies, and histological features on small bowel biopsy. Autoimmune enteropathy is associated with a number of other conditions and syndromes, most notably immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome and autoimmune polyglandular syndrome type 1 (APS-1). Diagnosis and treatment is challenging, and further research is needed to better understand the pathogenesis, disease progression, and long-term outcomes of these conditions.
自身免疫性肠炎是一种极其罕见的疾病，其特征为肠道免疫异常，通常在生命的头 6 个月内表现为严重的、难治性腹泻，对饮食调整没有反应。受影响的个体经常出现其他自身免疫迹象。该诊断基于小肠活检的临床症状、实验室研究和组织学特征的特征组合做出。自身免疫性肠炎与许多其他疾病和综合征有关，最常见的是免疫调节多内分泌腺病肠病 X 连锁（IPEX）综合征和自身免疫性多腺体综合征 1 型（APS-1）。诊断和治疗具有挑战性，需要进一步研究以更好地了解这些疾病的发病机制、疾病进展和长期结局。
