BRAIN and NERVE－神経研究の進歩66巻7号

2014年07月発行

増大特集 アミロイド関連神経疾患のすべて―封入体筋炎からアルツハイマー病まで

家族性アミロイドポリニューロパチー―新規薬物療法（ジフルニサルとタファミジス）

著者： 関島良樹¹

所属機関： ¹信州大学医学部脳神経内科，リウマチ・膠原病内科

ページ範囲：P.773 - P.781

文献概要

家族性アミロイドポリニューロパチー（FAP）に対しては肝移植の有効性が確立しているが，適応外の患者が多くを占める。TTR遺伝子変異に起因するトランスサイレチン四量体の不安定化が本症のアミロイド形成の原因であることから，近年トランスサイレチン四量体安定化薬（ジフルニサル，タファミジス）を用いたFAP治療のランダム化比較試験が実施され有効性が証明された。この結果を受け，タファミジスは2011年に欧州で，2013年にわが国でFAP治療薬として認可された。

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