ダノン病は,小児における高縮性心筋病変の認識されていない原因である
Zhao Yang1, Colin J McMahon, Liana R Smith
1Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
Circulation
|September 8, 2005
まとめ
ライソソーム関連タンパク質-2 (LAMP-2) 遺伝子変異は,小児性多動性心筋病 (HCM) 患者の4%で発見されており,ダノン病はHCM,骨格筋病,またはウルフ・パーキンソン・ホワイト症候群の小児でしばしば見過ごされていることを示しています.
科学分野:
- 遺伝学 遺伝学とは
- 心臓病学 心臓病学
- 珍しい病気 珍しい病気
背景:
- ハイパルトロフィック心筋病変 (HCM) と左心房高縮症は,骨格筋病変とウルフ・パーキンソン・ホワイト症候群 (WPW) と同時に発生することがあります.
- ライソソーム関連タンパク質-2 (LAMP-2) 遺伝子の変異は,これらの合併状態と関連しており,ダノン病を示唆しています.
- この研究は,小児性HCM患者におけるLAMP2変異の有病率を決定することを目的とした.
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