暗号性脳卒中の患者におけるファブリー病の罹患率:展望的研究
Arndt Rolfs1, Tobias Böttcher, Marlies Zschiesche
1Department of Neurology, University of Rostock, Rostock, Germany. arndt.rolfs@med.uni-rostock.de
Lancet (London, England)
|November 22, 2005
まとめ
ファブリー病は,若年成人における脳卒中の重要で,しばしば認識されていない原因です. この遺伝的疾患のスクリーニングは,原因不明の脳卒中の症例,特に脊髄大動脈系を含む症例において極めて重要です.
科学分野:
- 神経学 神経学とは
- 遺伝学 遺伝学とは
- 血管医学 血管医学とは
背景:
- 脳卒中は,若い成人の死亡と障害の主な原因であり,原因はしばしば不明のままである.
- アンダーソン・ファブリー病はX系遺伝疾患で,内皮血管病と脳性イシュケミアを引き起こす可能性があります.
- 未認識のファブリー病は,若い集団における暗号性脳卒中のかなりの部分に寄与する可能性があります.
研究 の 目的:
- 急性暗号性脳卒中を呈する若年成人患者のコホートにおける未診断のファブリー病の罹患率を調査する.
- 脳血管イベントの文脈におけるファブリー病変異の臨床的意義を評価する.
主な方法:
- 2001年から2004年の間に急性暗号性脳卒中を患った18歳から55歳のドイツ人患者721人をスクリーニングしました.
- 男性におけるプラズマアルファ-ガラクトシダース活性測定,その後,低酵素活性に対するアルファ-GAL遺伝子配列決定を行った.
- 女性におけるアルファ-GAL遺伝子の突然変異を遺伝的にスクリーニングし,酵素活性レベルに関係なく.
主要な成果:
- 男性 (21/432) の4.9%,女性 (7/289) の2.4%の脳卒中患者のアルファ-GAL遺伝子の生物学的に有意な変異を特定しました.
- 平均脳卒中の発症年齢は男性で38.4歳,女性で40.3歳でした.
- 脊髄筋動脈梗塞とドリホエクタティック血管変化の発生率が高くなることが,ファブリー病変異の患者で観察されました.
結論:
- ファブリー病は,若年成人における暗号性脳卒中の頻繁な根本的な原因であり,症例の約1.2%を占めています.
- 原因不明の脳卒中を患っているすべての若い患者にとって,ファブリー病の検討は不可欠です.
- 脊髄筋動脈系梗塞とタンパク質尿を呈する患者は特に注意すべきです,これはファブリー病の兆候かもしれません.
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