INTESTINE Vol.21 No.6(2-4)


特集名 小腸の炎症性病変を見直す
題名 各論(4)Chronic enteropathy associated with SLCO2A1 gene (CEAS,非特異性多発性小腸潰瘍症)の病態と特徴
発刊年月 2017年 11月
著者 梅野 淳嗣 九州大学大学院病態機能内科学
著者 江﨑 幹宏 九州大学大学院病態機能内科学
著者 平野 敦士 九州大学大学院病態機能内科学
著者 安川 重義 福岡大学筑紫病院消化器内科
著者 平井 郁仁 福岡大学筑紫病院消化器内科
著者 松井 敏幸 福岡大学筑紫病院消化器内科
著者 八尾 恒良 佐田病院
著者 松本 主之 岩手医科大学医学部内科学講座消化器内科消化管分野
【 要旨 】 遺伝学的に確定診断された非特異性多発性小腸潰瘍症45例の臨床像を検討した.本症は女性に多いこと,貧血は必発するが肉眼的血便はほぼみられないこと,炎症所見は比較的低値にとどまること,約30%に血族結婚を認めることが確認された.終末回腸を除く回腸を中心に病変は分布していたが,約半数に十二指腸病変を認めた.また約30%に肥厚性皮膚骨膜症の臨床徴候がみられた.性別による比較では,胃病変は女性に有意に多く,ばち指,骨膜症や皮膚肥厚といった肥厚性皮膚骨膜症の所見は男性に有意に多かった.本症の診断に際しては,小腸病変の評価に加えて上部消化管病変や消化管外徴候の評価,SLCO2A1遺伝子変異の検索も重要と考えられた.
Theme Reviewing inflammatory diseases of small bowel
Title Clinical features of chronic enteropathy associated with SLCO2A1 gene (CEAS)
Author Junji Umeno Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University
Author Motohiro Esaki Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University
Author Atsushi Hirano Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University
Author Shigeyoshi Yasukawa Department of Gastroenterology, Fukuoka University Chikushi Hospital
Author Fumihito Hirai Department of Gastroenterology, Fukuoka University Chikushi Hospital
Author Toshiyuki Matsui Department of Gastroenterology, Fukuoka University Chikushi Hospital
Author Tsuneyoshi Yao Sada Hospital
Author Takayuki Matsumoto Division of Gastroenterology, Department of Internal Medicine, Faculty of Medicine, Iwate Medical University
[ Summary ] We retrospectively analyzed the clinical features of 45 patients with chronic enteropathy associated with the SLCO2A1 gene (CEAS). According to the survey, CEAS occurred predominantly in females. It addition, 30 % of the patients had parental consanguinity. Most patients did not manifest symptoms of gross hematochezia but did have signs of anemia. They also exhibited relatively low inflammatory reactions. Small intestinal lesions of CEAS occurred commonly in the ileum (except the terminal ileum). Duodenal lesions were also found in 49 % of the patients. Clinical findings of primary hypertrophic osteoarthropathy such as digital clubbing, periostosis, and pachydermia were found in 30 % of the patients. A comparison of clinical features by gender revealed that gastric involvement was more frequently found in females, while clinical manifestations of primary hypertrophic osteoarthropathy were more frequently observed in males. In addition to endoscopic and radiographic examination of the small intestine, surveillance of upper GI involvement and extra-intestinal manifestation and genetic analysis are considered to be important for diagnosis of the disease.
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