非特異性多発性小腸潰瘍症/CEASとプロスタグランジン腸症

SLCO2A1-associated Chronic Enteropathy and Prostaglandin-associated Enteropathy

要旨●非特異性多発性小腸潰瘍症は，1960〜70年にかけて本邦で報告された原因不明の慢性小腸潰瘍症である．臨床例の集積から，本症に同胞発症や両親の血族結婚が認められること，本症の小腸内視鏡所見が非ステロイド性抗炎症薬起因性小腸潰瘍に類似することが明らかとなり，さらに遺伝的素因について解析を行った．家系内発症3家系のエクソーム解析，および肥厚性皮膚骨膜症を伴う小腸潰瘍症家系の遺伝子解析の結果から，原因遺伝子としてプロスタグランジントランスポーターを規定するSLCO2A1が同定された．以上の結果より，本症の新たな名称として，CEAS（chronic enteropathy associated with SLCO2A1 gene）を提唱したいと考える．

　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.