胃と腸58巻6号

2023年06月発行

今月の主題 分類不能腸炎（IBDU）の現状と将来展望

主題

希少疾患：monogenic IBDにおける臨床的特徴

著者： 竹内一朗¹ 新井勝大¹

所属機関： ¹国立成育医療研究センター消化器科・小児炎症性腸疾患（IBD）センター

ページ範囲：P.761 - P.772

文献概要

要旨●小児の炎症性腸疾患（IBD），特に超早期発症型炎症性腸疾患は，成人と比較して分類不能型IBDと診断される割合が高い不均一な集団であることが知られている．近年の遺伝学の発展により単一遺伝子異常によって腸炎を発症する“monogenic IBD”として診断される患者の存在が明らかとなり，現在までに75以上の原因遺伝子が報告されている．IBDの標準治療である免疫抑制薬が禁忌となる疾患や，造血幹細胞移植が有効な疾患も含まれ，早期診断と適切な治療介入が予後の改善につながるケースもある．本稿では，当センターでmonogenic IBDの診断に至った症例の臨床的特徴に関して，実際の症例を提示しながら解説する．

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31）公益財団法人かずさDNA研究所かずさ遺伝子検査室　https://www.kazusa.or.jp/genetest/index.html（2023年5月9日最終閲覧）