[The cochlea in Fabry disease: a sensorineural hearing loss model of vascular origin?].
OBJECTIVE
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.


CONCLUSIONS
Sensorineural hearing loss in Fabry disease could be the first documented vascular pathology of the inner ear.
Malinvaud
D
D
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.
Avan
P
P
Germain
D P
DP
Benistan
K
K
Bonfils
P
P
D003051:Cochlea / Q000503:physiopathology; D015834:Cochlear Diseases / Q000209:etiology*; D000795:Fabry Disease / Q000150:complications* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000209:etiology*; D006801:Humans; D014012:Tinnitus / Q000209:etiology; D014717:Vertigo / Q000209:etiology