ファブリー病の高齢女性における突然死

Sudden death in elderly women with Fabry's disease.

抄録

予期せぬ死を遂げた高齢女性の2例を報告する。両症例とも，光・電子顕微鏡検査によりファブリー病と診断された．主な病理学的変化は，心筋の斑点，筋細胞および糸球体内皮細胞の泡状空胞化，特徴的なラメラ状封入体であった．両者ともファブリー病の病歴はなかった。突然死を呈するファブリー病は非常に稀である。2例の所見を、特に循環器系に関連する文献のレビューとともに紹介する。

We report two cases of elderly women who died unexpectedly. In both cases, light- and electron-microscopical examination proved a diagnosis of Fabry's disease. The major pathological changes were myocardial mottling, foamy vacuolation of myocytes and glomerular endothelial cells, and characteristic lamellar inclusions. Neither woman had either a personal or family history of Fabry's disease. Fabry's disease presenting as sudden death is very rare. We present the findings in two cases together with a review of literature particularly relevant to the cardiovascular system.