ミトラル弁の転落と結合組織の全身的異常との関連. フェノタイプの連続体である
1Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, MD 21205.
JAMA
|July 28, 1989
まとめ
結合組織疾患の多くの患者は分類されていないまま,マーファン症候群のような特徴を示しています. これらの症例は,MASS現象型と呼ばれる遺伝性結合組織疾患の"重複"を表しています.
科学分野:
- 遺伝学 遺伝学とは
- リーマトロジーの病理学
- 心臓病学 心臓病学
背景:
- 遺伝性結合組織疾患で評価された患者の半数以上は,現在の分類が欠けている.
- これらの分類されていない患者は,マルファン症候群と重複する臨床的特徴をしばしば示しています.
研究 の 目的:
- 結合組織異常が重なり合っている患者のコホートを記述する.
- マルファン症候群の特徴があるが,完全な診断基準を満たしていない患者の分類を提案する.
主な方法:
- 遺伝性結合組織疾患の疑いのある患者の臨床評価.
- 骨格,心臓,皮膚の症状を含むフェノタイプ分析.
- ミトラル弁の転落と大動脈の膨張による分層化.
主要な成果:
- 患者の有意な割合は,細胞外マトリックス欠陥の証拠にもかかわらず,既存の鼻病に適合しなかった.
- 共通する特徴には,長い四肢,胸部変形,,ミトラル弁の転落,軽度の大動脈根の膨張が含まれていた.
- フェノタイプはマルファン症候群から孤立したミトラル弁の転倒まで連続体を形成しました.
結論:
- 遺伝性結合組織疾患の"重複"を持つ患者の明確なグループが存在します.
- これらの患者には"MASS現象型" (ミトラル弁,大動脈,骨格,皮膚) が提案されています.
- 決定的な遺伝的または生化学的マーカーがなければ,臨床診断は依然として困難です.
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