Keck School of Medicine of the University of Southern California, 1975 Zonal Avenue, Keith Administration 100B, Los Angeles, CA, 90089, USA.
Division of Gastroenterology, Hepatology, and Nutrition, University of Utah School of Medicine, 300 North 1900 East SOM 4R118, Salt Lake City, UT, 84132, USA.
Clin J Gastroenterol. 2021 Apr;14(2):546-550. doi: 10.1007/s12328-020-01336-9. Epub 2021 Feb 25.
Autoimmune enteropathy (AIE) is a rare immune disorder of the gut seldom found in adults and characterized by uncontrollable diarrhea resulting in malabsorption. While AIE is known to be pan-enteric, virtually all cases have presented with altered duodenal histology following known patterns with or without macroscopic change. We describe a unique case of seronegative AIE lacking typical duodenal manifestations in a 43-year-old female. To our knowledge, this is the first report of AIE lacking usual duodenal histologic changes, which resulted in missed diagnosis for years. Ultimately, crypt epithelial apoptosis, mononuclear inflammation of the lamina propria, and goblet cell loss of intestinal mucosa besides the duodenum clinched the diagnosis of AIE. Colonic histologic abnormalities consistent with AIE in the setting of diarrhea with malnutrition despite duodenal sparing should prompt suspicion for AIE given the pan-enteric nature of this disease.
自身免疫性肠炎（AIE）是一种罕见的肠道免疫紊乱，很少见于成年人，其特征是无法控制的腹泻导致吸收不良。虽然已知 AIE 是全肠性的，但实际上所有病例在出现明显的宏观变化或无宏观变化之前，都表现为十二指肠组织学改变。我们描述了一例独特的血清阴性 AIE 病例，该患者为 43 岁女性，缺乏典型的十二指肠表现。据我们所知，这是首例报道的缺乏常见十二指肠组织学改变的 AIE 病例，导致多年来误诊。最终，除了十二指肠外，肠黏膜隐窝上皮细胞凋亡、固有层单核炎症和杯状细胞丢失，这些都明确了 AIE 的诊断。在存在腹泻和营养不良的情况下，即使十二指肠未受累，结肠组织学异常仍符合 AIE，鉴于该病的全肠性，应提示对 AIE 的怀疑。
