title: [Auditory and vestibular findings in Fabry disease: a study of 25 patients].
abstract: OBJECTIVE
  Fabry disease (FD, OMIM 301500) is an X-linked lysosomal storage disorder due to deficient activity of the enzyme alpha-galactosidase A. Males and females exhibit severe organ involvement. The high incidence of otological symptoms was recently reported.
  
  
  METHODS
  Monocentric and retrospective study of twenty-five patients with FD (13 families; seven males and 18 females). The patients underwent audiological assessment before initiation and during enzyme replacement therapy. We also analysed neurologic heart and kidney status.
  
  
  RESULTS
  Twenty patients (80%; 13 females and seven males) complained of otologic symptoms. Audiological evaluation showed a sensorineural hearing loss in 17 patients, bilateral in 16 out of them. Vestibular examination showed a functional impairment in two patients (one female, one male). Correlations were found between hearing loss and either kidney disease (73,3%), neurological complications (100%) and cardiomyopathy (80%). Fourteen patients (56%; seven females, seven males) received enzyme replacement therapy. Improvement or stabilization of the audiological evaluation was reported in seven patients, whereas worsening was observed in three patients.
  
  
  CONCLUSIONS
  This study confirms the high frequency of audiological involvements in females and males with FD. Our analysis suggests that the frequency of hearing loss is increased in the presence of renal or neurologic involvement or cardiomyopathy. There is no clinically significant efficacy of enzyme replacement therapy on hearing function. Although the pathophysiology remains unknown, a vascular mechanism responsible of the inner ear involvement seems to be privileged.
authors.affiliation: Service de médecine interne, hôpital Bichat Claude Bernard, 46, rue Henri-Huchard, 75877 Paris cedex 18, France.
authors.forename: M
authors.initials: M
authors.lastname: Pichon
authors.forename: O
authors.initials: O
authors.lastname: Lidove
authors.forename: M-L
authors.initials: ML
authors.lastname: Roudaire
authors.forename: B
authors.initials: B
authors.lastname: Barry
authors.forename: P
authors.initials: P
authors.lastname: Herman
authors.forename: D
authors.initials: D
authors.lastname: Gobert
authors.forename: E
authors.initials: E
authors.lastname: Pasqualoni
authors.forename: C
authors.initials: C
authors.lastname: Compain
authors.forename: M-P
authors.initials: MP
authors.lastname: Chauveheid
authors.forename: T
authors.initials: T
authors.lastname: Papo
mesh_terms: D000328:Adult; D000368:Aged; D001299:Audiometry; D018450:Disease Progression; D007758:Ear, Inner; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D015994:Incidence; D007676:Kidney Failure, Chronic / Q000150:complications*; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D014722:Vestibule, Labyrinth / Q000503:physiopathology*; D055815:Young Adult