原著
神経耳科学的見地から長期間経過観察した Fabry 病の一例
2021 年 80 巻 4 号 p. 277-284
詳細
2021 年 80 巻 4 号 p. 277-284
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.
