Malinvaud D, Avan P, Germain D P, Benistan K, Bonfils P
Laboratoire de Recherche CNRS 7060 Neurobiologie des Systèmes Sensorimoteurs, Département d'ORL et de Chirurgie Cervicofaciale, Faculté de Médecine Paris-V, Université René-Descartes, Hôpital Européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France.
Rev Med Interne. 2006 Jul;27(7):527-31. doi: 10.1016/j.revmed.2005.12.006. Epub 2006 Jan 6.
Fabry disease is an inborn error of metabolism due to a deficient activity of the lysosomal enzyme alpha-galactosidase A. The enzyme defect leads to the systemic accumulation of neutral glycosphingolipids in tissues, mainly in the vascular endothelium.
The aim of this paper is to present a review of the auditory manifestations in Fabry disease, and to discuss hypothesis on the vascular origin of deafness.
Sensorineural hearing loss in Fabry disease could be the first documented vascular pathology of the inner ear.
法布里病是一种由于溶酶体酶α - 半乳糖苷酶A活性不足引起的先天性代谢紊乱疾病。该酶缺陷导致中性糖鞘脂在组织中系统性蓄积，主要在血管内皮。
本文旨在综述法布里病的听觉表现，并探讨耳聋血管起源的假说。
法布里病中的感音神经性听力损失可能是内耳首个有记录的血管病变。
