LAMP2心筋病変における臨床結果とフェノタイプ表現
Barry J Maron1, William C Roberts, Michael Arad
1Hypertrophic Cardiomyopathy Center, Minneapolis Heart Institute Foundation, 920 E 28th St, Ste 620, Minneapolis, MN 55407, USA. hcm.maron@mhif.org
JAMA
|March 26, 2009
まとめ
LAMP2遺伝子変異によって引き起こされるダノン病は,若い患者で重度の心筋病を引き起こす. 早期診断は,予後と心臓移植の検討において,急速な臨床的悪化と25歳未満の死亡を防ぐために極めて重要です.
科学分野:
- 心臓病学 心臓病学
- 遺伝学 遺伝学とは
- リソソーム性貯蔵病 リンソーム性貯蔵病
背景:
- X-リンクされたリソソーム関連膜タンパク質遺伝子 (LAMP2) の変異により,ダノン病が発症し,多動性心筋病 (HCM) を模倣する心筋病である.
- LAMP2心筋症の自然経歴と臨床表現は,有意な臨床的影響にもかかわらず,十分に理解されていません.
研究 の 目的:
- LAMP2心筋病変の臨床的アウトカム,予後,およびフェノタイプ特性を調査する.
- この状態の診断と管理戦略を評価する.
主な方法:
- 確認されたLAMP2変異を持つ7人の若い患者 (6人の男性) の臨床経過とアウトカムの見通し評価.
- 臨床検査と死後の解剖によるフェノタイプ評価.
主要な成果:
- 患者は重度の左心室収縮機能不全,腔の拡大,顕著な高縮 (最大65mm) を発症した.
- 有害なアウトカムには,進行性心不全,心臓死 (n=4),突然死 (n=1),24歳までに心臓移植 (n=1) が含まれていた.
- 解剖は,真空化ミオサイトとミオサイトの混乱を含む,リソソマ貯蔵疾患とHCMの両方の特徴を明らかにしました.
結論:
- LAMP2心筋症は,25歳未満の患者の急速な臨床衰退と高い死亡率を有する重症疾患です.
- 早期の分子診断は,予後を予測し,早期の心臓移植の決定を導くために不可欠です.
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