SLCO2A1-associated Chronic Enteropathy and Prostaglandin-associated Enteropathy Takayuki Matsumoto 1 , Junji Umeno 2 , Motohiro Esaki 2 , Tadakazu Hisamatsu 3 , Mitsuo Iida 4 , Tsuneyoshi Yao 5 1Division of Gastroenterology, Department of Internal Medicine, Iwate Medical University, Morioka, Japan 2Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan 3Third Department of Internal Medicine, Faculty of Medicine, Kyorin University, Tokyo 4Kyushu Central Hospital, Fukuoka, Japan 5Sada Hospital, Fukuoka, Japan Keyword: 非特異性多発性小腸潰瘍症 , SLCO2A1 , 非ステロイド性抗炎症薬 pp.1406-1410
Published Date 2017/10/25
DOI https://doi.org/10.11477/mf.1403201189
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 Chronic nonspecific multiple ulcers of the small intestine(CNSU)indicate an enteropathy of obscure origin initially reported in the 1960s. On the basis of a retrospective analysis of historically accumulated cases, we found that the disease is characterized by a family history of consanguinity and sharply demarcated circular or linear small bowel ulcers resembling those observed in steroidal anti-inflammatory drug-induced enteropathy. Furthermore, exome sequencing of three family pedigrees and sequencing of a family pedigree accompanied by the presence of pachydermoperiostosis identified a gene, referred to as SLCO2A1, encoding a prostaglandin transporter to be responsible for CNSU. On the basis of these findings, we would like to propose a nomenclature of chronic naturopathy associated with SLCO2A1 for CNSU.

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