Genetic analysis is helpful for the diagnosis of small bowel ulceration  

作　　者：Junji Umeno Takayuki Matsumoto Atsushi Hirano Yuta Fuyuno Motohiro Esaki 

机构地区：[1]Department of Medicine and Clinical Science,Graduate School of Medical Sciences,Kyushu University,Fukuoka,Fukuoka 812-8582,Japan [2]Division of Gastroenterology,Department of Internal Medicine,Faculty of Medicine,Iwate Medical University,Morioka,Iwate 020-8505,Japan [3]Department of Endoscopic Diagnostics and Therapeutics,Saga University Hospital,Saga 849-8501,Japan

出　　处：《World Journal of Gastroenterology》2018年第28期3198-3200,共3页世界胃肠病学杂志（英文版）

基　　金：Supported by the Practical Research Project for Rare/Intractable Diseases from Japan Agency for Medical Research and Development(AMED),No.15ek0109053h0002;the Japan Society for the Promotion of Science(JSPS)KAKENHI,No.25460953

摘　　要：The widespread use of capsule endoscopy and balloonassisted 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 PLA2G4A and SLCO2A1 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.The widespread use of capsule endoscopy and balloonassisted 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 PLA2G4A and SLCO2A1 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.

关 键 词：CRYPTOGENIC multifocal ulcerous stenosing ENTERITIS CHRONIC NONSPECIFIC multiple ulcers of the small intestine CHRONIC ENTEROPATHY associated with SLCO2A1 gene Crohn’s disease 

分 类 号：R57[医药卫生—消化系统]