Abstract
A case of sudden deafness following enzyme replacement therapy with Fabry disease
Soichiro Matsuo＊, Natsumi Uehara, Takeshi Fujita, Akinobu Kakigi, Ken-ichi Nibu
＊Department of Otorhinolaryngology-head and neck surgery, Kobe University Graduate School of Medicine, Kobe
Fabry disease is a genetic metabolic disorder caused by a deficiency of α-galactosidase（GLA）, which leads to the accumulation of sphingolipids in the lysosomes and results in a variety of systemic symptoms. It is an X-linked disorder and is treated with enzyme replacement therapy（ERT）. This case report describes a 27-year-old man with classic Fabry disease who developed sudden sensorineural hearing loss after more than one year of ERT. The report discusses the mechanisms of hearing loss in Fabry disease, the limitations of ERT in the treatment of the inner ear. Early intervention and multidisciplinary collaboration are essential to manage the disease and prevent complications.
はじめに
Fabry（ファブリー）病は，ライソゾーム分解酵素であるα-ガラクトシダーゼ（GLA）が遺伝的に欠損することにより，血管の内皮細胞や平滑筋をはじめ全身の細胞のライソゾームにスフィンゴ糖脂質が蓄積し，多彩な臨床症状がみられる先天性代謝性疾患1）であり，国の指定難病でもある。GLA遺伝子はX染色体上に存在し，Fabry病はX連鎖潜性遺伝形式で発症する。治療法は不足した正常酵素タンパク質を補充する酵素補充療法（enzyme replacement therapy： ERT）が第一選択である。今回，当科でERT後1年以上が経過したのちに急性感音難聴を発症した1例を経験したので，文献的考察を加えて報告する。