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Genetic analysis is helpful for the diagnosis of small bowel ulceration

World Journal of Gastroenterology 2018年第28期24卷 3198-3200页

作者： Junji Umeno Takayuki Matsumoto Atsushi Hirano yuta fuyuno Motohiro Esaki Department of Medicine and Clinical Science Graduate School of Medical SciencesKyushu UniversityFukuokaFukuoka 812-8582Japan Division of Gastroenterology Department of Internal MedicineFaculty of MedicineIwate Medical UniversityMoriokaIwate 020-8505Japan Department of Endoscopic Diagnostics and Therapeutics Saga University HospitalSaga 849-8501Japan

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

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Measurement of prostaglandin metabolites is useful in diagnosis of small bowel ulcerations

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World Journal of Gastroenterology 2019年第14期25卷 1753-1763页

作者： Yuichi Matsuno Junji Umeno Motohiro Esaki Yoichiro Hirakawa yuta fuyuno Yasuharu Okamoto Atsushi Hirano Shigeyoshi Yasukawa Fumihito Hirai Toshiyuki Matsui Shuhei Hosomi Kenji Watanabe Naoki Hosoe Haruhiko Ogata Tadakazu Hisamatsu Shunichi Yanai Shuji Kochi Koichi Kurahara Tsuneyoshi Yao Takehiro Torisu Takanari Kitazono Takayuki Matsumoto Department of Medicine and Clinical Science Graduate School of Medical Sciences Kyushu University Department of Endoscopic Diagnostics and Therapeutic Saga University Hospital Department of Epidemiology and Public Health Graduate School of Medical Sciences Kyushu University Department of Gastroenterology Fukuoka University Chikushi Hospital Department of Gastroenterology Osaka City University Graduate School of Medicine Department of Intestinal Inflammation Research Hyogo College of Medicine Center for Diagnostic and Therapeutic Endoscopy School of Medicine Keio University the Third Department of Internal Medicine Kyorin University School of Medicine Division of Gastroenterology Department of Internal Medicine Iwate Medical University Division of Gastroenterology Matsuyama Red Cross Hospital Department of Gastroenterology Sada Hospital

BACKGROUND We recently reported on a hereditary enteropathy associated with a gene encoding a prostaglandin transporter and referred to as chronic enteropathy associated with SLCO2 A1 gene(CEAS). Crohn's disease(CD) is a major differential diagnosis of CEAS, because these diseases share some clinical features. Therefore, there is a need to develop a convenient screening test to distinguish CEAS from *** To examine whether prostaglandin E major urinary metabolites(PGE-MUM) can serve as a biomarker to distinguish CEAS from *** This was a transactional study of 20 patients with CEAS and 98 patients with *** was diagnosed by the confirmation of homozygous or compound heterozygous mutation of SLCO2 A1. We measured the concentration of PGEMUM in spot urine by radioimmunoassay, and the concentration was compared between the two groups of patients. We also determined the optimal cut-off value of PGE-MUM to distinguish CEAS from CD by receiver operating characteristic(ROC) curve *** Twenty Japanese patients with CEAS and 98 patients with CD were ***-MUM concentration in patients with CEAS was significantly higher than that in patients with CD(median 102.7 vs 27.9 μg/g × Cre, P < 0.0001). One log unit increase in PGE-MUM contributed to 7.3 increase in the likelihood for the diagnosis of CEAS [95% confidence interval(CI) 3.2-16.7]. A logistic regression analysis revealed that the association was significant even after adjusting confounding factors(adjusted odds ratio 29.6, 95%CI 4.7-185.7). ROC curve analysis revealed the optimal PGE-MUM cut-off value for the distinction of CEAS from CD to be 48.9 μg/g × Cre with 95.0% sensitivity and 79.6% *** PGE-MUM measurement is a convenient, non-invasive and useful test for the distinction of CEAS from CD.

关键词： Chronic enteropathy associated with SLCO2A1 gene Prostaglandin E major urinary metabolites Chronic nonspecific multiple ulcers of the small intestine Crohn's disease Small intestine

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