Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Fukuoka 812-8582, Japan.
Division of Gastroenterology, Department of Internal Medicine, Faculty of Medicine, Iwate Medical University, Morioka, Iwate 020-8505, Japan.
World J Gastroenterol. 2018 Jul 28;24(28):3198-3200. doi: 10.3748/wjg.v24.i28.3198.
The widespread use of capsule endoscopy and balloon-assisted endoscopy has provided easy access for detailed mucosal assessment of the small intestine. However, the diagnosis of rare small bowel diseases, such as cryptogenic multifocal ulcerous stenosing enteritis (CMUSE), remains difficult because clinical and morphological features of these diseases are obscure even for gastroenterologists. In an issue of this journal in 2017, Hwang et al reviewed and summarized clinical and radiographic features of 20 patients with an established diagnosis of CMUSE. Recently, recessive mutations in the and genes have been shown to cause small intestinal diseases. The small bowel ulcers in each disease mimic those in the other and furthermore those found in nonsteroidal anti-inflammatory drug-induced enteropathy. These recent and novel findings suggest that a clinical diagnosis exclusively based on the characteristics of small bowel lesions is possibly imprecise. Genetic analyses seem to be inevitable for the diagnosis of rare small bowel disorders such as CMUSE.
胶囊内镜和气囊辅助内镜的广泛应用为小肠的详细黏膜评估提供了便利。然而，由于这些疾病的临床和形态学特征即使对于胃肠病学家来说也很模糊，因此仍然难以诊断诸如隐源性多灶性溃疡性狭窄性肠炎（CMUSE）等罕见的小肠疾病。在 2017 年该期刊的一期中，Hwang 等人回顾和总结了 20 例确诊为 CMUSE 的患者的临床和影像学特征。最近，已经发现 和 基因的隐性突变会导致小肠疾病。每种疾病的小肠溃疡都与其他疾病相似，而且与非甾体抗炎药诱导的肠炎相似。这些最近的新发现表明，仅基于小肠病变特征的临床诊断可能不够精确。对于 CMUSE 等罕见的小肠疾病的诊断，遗传分析似乎是不可避免的。
