難聴・めまいを生じたFabry病の1例

A case of Fabry disease with dizziness and hearing loss

はじめに

　Fabry病は，X染色体劣性の遺伝性疾患で，α-ガラクトシダーゼの活性の欠損および低下により，全身にスフィンゴ糖脂質が蓄積された結果，多彩な症状を示す稀な疾患である^1）。近年，本疾患の認知が高まり，わが国においても難聴，めまいの合併が多いことがわかってきている^2～4）。

　今回，われわれは難聴，めまいを合併した，酵素補充療法中のFabry病患者を経験したので，若干の文献的考察を加えて報告する。

　We report a case of Fabry disease in a 52-year-old man with dizziness and bilateral hearing loss. He was diagnosed to have Fabry disease due to a decline in the enzyme activity of α-galactosidase. Analysis of the clinical data from pure tone audiometry, DPOAE, ABR and nystagmus test revealed bilateral sensorineural hearing loss and peripheral imbalance. These findings suggested the inner ear disorder due to Fabry disease. We performed enzyme replacement therapy, and the dizziness was improved, but the improvement of the hearing function was not acceptable.