Abstract

多発性嚢胞腎は両側腎臓，肝臓を中心に多発性の嚢胞が出現し，腎機能が徐々に低下する遺伝性疾患で，同時に脳・心血管系の異常，腸管憩室などの合併症を伴う全身疾患である．これまでは腎嚢胞の拡大を抑制する治療がないため，腎障害が進行するまで放置されることが多かったが，責任遺伝子が発見されて以来，腎嚢胞の形成・拡大の病態が解明されてきた．降圧治療に加え，V2受容体抑制薬の治験など新たな治療が検討されている．

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