Literature DB >> 16521018

Progressive hearing loss in Fabry's disease: a case report.

Florian M Barras1, Raphaël Maire.   

Abstract

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.

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Year:  2006        PMID： 16521018     DOI： 10.1007/s00405-006-0023-0

Source DB:  PubMed          Journal:  Eur Arch Otorhinolaryngol        ISSN： 0937-4477            Impact factor:   2.503


  11 in total

Review 1.  Enzyme replacement therapy for Fabry disease: proving the clinical benefit.

Authors:  Frank Breunig; Christoph Wanner
Journal:  Nephrol Dial Transplant       Date:  2003-01       Impact factor: 5.992

Review 2.  Evaluation of peripheral and autonomic nerve function in Fabry disease.

Authors:  M J Hilz
Journal:  Acta Paediatr Suppl       Date:  2002

3.  Hearing evaluation with distortion-product otoacoustic emissions in young patients undergoing haemodialysis.

Authors:  P Stavroulaki; T P Nikolopoulos; I Psarommatis; N Apostolopoulos
Journal:  Clin Otolaryngol Allied Sci       Date:  2001-06

4.  Otologic histopathology of Fabry's disease.

Authors:  P A Schachern; D A Shea; M M Paparella; T H Yoon
Journal:  Ann Otol Rhinol Laryngol       Date:  1989-05       Impact factor: 1.547

Review 5.  Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.

Authors:  Robert J Desnick; Roscoe Brady; John Barranger; Allan J Collins; Dominique P Germain; Martin Goldman; Gregory Grabowski; Seymour Packman; William R Wilcox
Journal:  Ann Intern Med       Date:  2003-02-18       Impact factor: 25.391

6.  The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)--investigation of symptomatic and presymptomatic patients.

Authors:  S H Morgan; P Rudge; S J Smith; A M Bronstein; B E Kendall; E Holly; E P Young; M D Crawfurd; R Bannister
Journal:  Q J Med       Date:  1990-05

Review 7.  Fabry disease: diagnosis and treatment.

Authors:  Frank Breunig; Frank Weidemann; Meinrad Beer; Andreas Eggert; Vera Krane; Matthias Spindler; Jörn Sandstede; Jörg Strotmann; Christoph Wanner
Journal:  Kidney Int Suppl       Date:  2003-05       Impact factor: 10.545

8.  Cerebrovascular complications of Fabry's disease.

Authors:  P Mitsias; S R Levine
Journal:  Ann Neurol       Date:  1996-07       Impact factor: 10.422

9.  The effect of hemodialysis on hearing using pure-tone audiometry and distortion-product otoacoustic emissions.

Authors:  O Ozturan; S Lam
Journal:  ORL J Otorhinolaryngol Relat Spec       Date:  1998 Nov-Dec       Impact factor: 1.538

10.  Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients.

Authors:  Dominique P Germain; Paul Avan; Augustin Chassaing; Pierre Bonfils
Journal:  BMC Med Genet       Date:  2002-10-11       Impact factor: 2.103
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  2 in total

1.  Fabry disease presenting with sudden hearing loss and otosclerosis: a case report.

Authors:  Giovanni Felisati; Elisabetta Salvatici; Carlotta Pipolo; Sara Portaleone; Enrica Riva; Marcello Giovannini
Journal:  J Med Case Rep       Date:  2012-04-16

2.  Balance control impairments in Fabry disease.

Authors:  Laetitia Peultier-Celli; Roland Jaussaud; Pierre Kaminsky; Joëlle Deibener-Kaminsky; François Feillet; Philippe Perrin
Journal:  Front Neurol       Date:  2022-09-30       Impact factor: 4.086
  2 in total

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