マーファン症候群のフェノタイプ評価におけるダラルエクタジアの重要性
R Fattori1, C A Nienaber, B Descovich
1Institute of Radiology, University Hospital S Orsola, Bologna, Italy. ross@med.unibo.it
Lancet (London, England)
|September 18, 1999
まとめ
脊髄疾患であるドゥラルエクタシアは,マーファン症候群の患者に非常に多く見られ,研究対象者の92%に罹患しています. この特徴的な兆候は,若い個体でも存在し,マーファン症候群の早期診断を助けます.
科学分野:
- 医学画像検査 医学画像検査
- 遺伝学 遺伝学とは
- 心臓病学 心臓病学
背景:
- マルファン症候群の診断は,様々な症状のために困難です.
- 早期発見は,大動脈の合併症を予防するために極めて重要です.
- マーファン症候群におけるドゥラルエクタジアの罹患率と診断上の有用性は不明である.
研究 の 目的:
- マーファン症候群におけるダラルエクタジアの有病率を決定する.
- デュラルエクタジアと大動脈病理学の関係を調査する.
- マーファン症候群の診断マーカーとしてドゥラルエクタジアを評価する.
主な方法:
- マルファン症候群の83人の患者で,大動脈と脊椎の磁気共鳴画像 (MRI) を用いた.
- デュラルエクタジアと大動脈関わりの評価.
- 腰椎のMRIを受けた100人の対照群と比較した.
主要な成果:
- 持続性エクタジアは,マルファン症候群患者の92%で,対照群では0%で確認されました.
- 持続性エクタジアの重度は年齢と相関する.
- 大動脈の膨張と持続性エクタジアとの間には関連性が見られなかった.
結論:
- 持続性エクタジアは,マルファン症候群の非常に一般的で特徴的な兆候です.
- その存在は,小児患者の場合でも示唆的です.
- デュラルエクタジアは,マーファン症候群の診断基準である.
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