循環器ジャーナル71巻1号

2023年01月発行

特集 ここが変わった！循環器診療 最新スタンダード Ⅰ．疾患各論

Fabry（ファブリー）病

著者： 山川裕之¹²

所属機関： ¹慶應義塾大学医学部循環器内科 ²慶應義塾大学予防医療センター

ページ範囲：P.88 - P.97

ここが変わった！
●過去のスタンダード
　・Fabry病は小児科の希少疾患と考えられていた．
　・Fabry病の診断としては，αGAL酵素活性や症状だけで診断していた．
　・治療は，酵素補充療法が主体であった．
●現在のスタンダード
　・Fabry病は，女性や男性成人で発症し，心肥大に1%程度存在する．
　・Fabry病の診断としては，症状だけでなく，男女ともに遺伝子診断が必要である．
　・治療は酵素補充療法・薬理学的シャペロン療法だが，遺伝子治療も臨床試験が行われている．

参考文献

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