循環器ジャーナル71巻4号

2023年10月発行

特集 変革期を迎えた肺高血圧症—次世代の病態理解，診断，治療とは？ Ⅲ.肺高血圧症における最新トピックス

肺高血圧症における遺伝学的知見

著者： 平出貴裕¹

所属機関： ¹慶應義塾大学医学部循環器内科

ページ範囲：P.584 - P.589

POINT
●遺伝学的検査技術の進歩により肺高血圧症の発症原因遺伝子が多く報告されているが，約7割の症例ではいまだに発症原因遺伝子が同定されていない．
●肺高血圧症診療において，遺伝学的検査は疾患の診断や予後予測，家族員の早期発見に有用である一方，根治療法がないため，検査の実施や結果の開示には十分に配慮が必要である．

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