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

被引:6
作者
Barras, Florian M. [1 ]
Maire, Raphael [1 ]
机构
[1] Univ Lausanne Hosp, CHUV, Dept Otorhinolaryngol & Cervicofacial Surg, CH-1011 Lausanne, Switzerland
关键词
Fabry's disease; inner ear; hearing loss; sudden deafness;
D O I
10.1007/s00405-006-0023-0
中图分类号
R76 [耳鼻咽喉科学];
学科分类号
100213 ;
摘要
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.
引用
收藏
页码:688 / 691
页数:4
相关论文
共 12 条
[1]   Fabry disease: Diagnosis and treatment [J].
Breunig, F ;
Weidemann, F ;
Beer, M ;
Eggert, A ;
Krane, V ;
Spindler, M ;
Sandstede, J ;
Strotmann, J ;
Wanner, C .
KIDNEY INTERNATIONAL, 2003, 63 :S181-S185
[2]   Enzyme replacement therapy for Fabry disease: proving the clinical benefit [J].
Breunig, F ;
Wanner, C .
NEPHROLOGY DIALYSIS TRANSPLANTATION, 2003, 18 (01) :7-9
[3]   Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy [J].
Desnick, RJ ;
Brady, R ;
Barranger, J ;
Collins, AJ ;
Germain, DP ;
Goldman, M ;
Grabowski, G ;
Packman, S ;
Wilcox, WR .
ANNALS OF INTERNAL MEDICINE, 2003, 138 (04) :338-346
[4]  
Germain Dominique P, 2002, BMC Med Genet, V3, P10, DOI 10.1186/1471-2350-3-10
[5]   Evaluation of peripheral and autonomic nerve function in Fabry disease [J].
Hilz, MJ .
ACTA PAEDIATRICA, 2002, 91 :38-42
[6]   Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males [J].
MacDermot, KD ;
Holmes, A ;
Miners, AH .
JOURNAL OF MEDICAL GENETICS, 2001, 38 (11) :750-760
[7]  
Meikle PJ, 1999, JAMA-J AM MED ASSOC, V281, P49
[8]   Cerebrovascular complications of Fabry's disease [J].
Mitsias, P ;
Levine, SR .
ANNALS OF NEUROLOGY, 1996, 40 (01) :8-17
[9]  
MORGAN SH, 1990, Q J MED, V75, P491
[10]   The effect of hemodialysis on hearing using pure-tone audiometry and distortion-product otoacoustic emissions [J].
Ozturan, O ;
Lam, S .
ORL-JOURNAL FOR OTO-RHINO-LARYNGOLOGY AND ITS RELATED SPECIALTIES, 1998, 60 (06) :306-313