Barras Florian M, Maire Raphaël
Department of Oto-Rhino-Laryngology and Cervico-Facial Surgery, Lausanne University Hospital (CHUV), 1011, Lausanne, Switzerland.
Eur Arch Otorhinolaryngol. 2006 Jul;263(7):688-91. doi: 10.1007/s00405-006-0023-0. Epub 2006 Mar 7.
Fabry's disease is a chromosomal X-linked inherited disease, which causes a lack of the lysosomal alpha-galactosidase A enzyme leading to a cellular accumulation of glycosphingolipids. This accumulation leads to various clinical disorders, including inner ear lesions, with sensorineural hearing loss and dizziness. This article proposes to describe a clinical case of a patient suffering from Fabry's disease with inner ear associated problems and to review the literature focusing on this subject.
法布里病是一种X染色体连锁的遗传性疾病,它会导致溶酶体α-半乳糖苷酶A缺乏,进而引起鞘糖脂在细胞内蓄积。这种蓄积会导致多种临床病症,包括内耳病变,出现感音神经性听力损失和头晕。本文旨在描述一例患有法布里病且伴有内耳相关问题的患者的临床病例,并综述聚焦于该主题的文献。