A case of Fabry disease followed up for a long time from a neuro-otological point of view

Fabry病は,αガラクトシダーゼ欠損により,血 管の内皮細胞や平滑筋細胞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することが主 病態である国の指定難病の1つである。X連鎖劣性 遺伝形式で発症し,脂質の蓄積による血管障害を主 体とした多彩な臨床症状を示すが,耳鼻咽喉科領域 では難聴,めまい,ふらつき等が多く見られる。 今回,当科で約10年弱の定期的な聴力検査,さら には神経耳科学的検査を含めて経過観察を施行した Fabry disease is an X-linked recessive disorder characterized by progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells caused by a deficient activity of the enzyme α-galactosidase A (α-Gal A). Hearing loss, tinnitus, and dizziness are relatively common symptoms of Fabry disease. We report a case of Fabry disease in a 43-year-old man who presented with bilateral hearing disturbance, vertigo, and dizziness. We had regular hearing tests for about 10 years. Although the patient received enzyme replacement therapy, he developed deafness of sudden onset 3 years after the start of treatment. The auditory deterioration improved with steroid treatment, the patient’s systemic symptoms gradually worsened, and he died less than 10 years after the first treatment. As in this case, enzyme replacement therapy exerts scarce effect on hearing in cases of Fabry disease. In the event of acute exacerbation of auditory symptoms, active steroid therapy should be administered. Otorhinolaryngologists should include Fabry disease in the differential diagnosis in patients presenting with unexplained sensorineural hearing loss associated with renal failure. 原 著