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要旨●非特異性多発性小腸潰瘍症は,まれな難治性の小腸潰瘍症である.その実態は,プロスタグランジン輸送体をコードするSLCO2A1遺伝子の機能喪失変異に伴う常染色体劣性遺伝病であり,プロスタグランジン関連腸症の一つであることが解明された.回腸を中心に多発する,輪走ないし斜走する比較的浅い開放性潰瘍や非対称性の変形を特徴とするが,胃や十二指腸にも病変を認めることがある.臨床経過や特徴的な消化管画像所見に加え,消化管外徴候の評価や遺伝子検査も本症の診断に重要である.
CEAS(chronic enteropathy associated with the SLCO2A1 gene)is a rare, intractable, hereditary disease manifested by multiple small bowel ulcers with nonspecific pathological findings. Recent research has established CEAS as an autosomal recessive disorder caused by mutations in the SLCO2A1 gene, which encodes a prostaglandin transporter. Lately, CEAS has been revealed as “the prostaglandin-associated enteropathy”. Typically, CEAS presents multiple, longitudinal or curved, and shallow ulcers in the ileum but occasionally also presents ulcerative lesions in the stomach and the duodenum. Besides a clinical course and specific gastrointestinal findings, extraintestinal manifestations or a genetic test could facilitate the diagnosis of CEAS.
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