Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy
| Autor: | Y. Enever, K. Mackermot, D Hajioff, R. E. Quiney, Atul Mehta, J Zuckerman |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Hearing loss Hearing Loss Sensorineural Hearing Loss Conductive Placebo otorhinolaryngologic diseases Genetics Medicine Humans Genetics (clinical) Alpha-galactosidase biology medicine.diagnostic_test business.industry Vascular disease Enzyme replacement therapy Middle Aged medicine.disease Fabry disease Recombinant Proteins Surgery Isoenzymes alpha-Galactosidase biology.protein Fabry Disease Sensorineural hearing loss medicine.symptom Audiometry business |
| Zdroj: | Journal of inherited metabolic disease. 26(8) |
| ISSN: | 0141-8955 |
| Popis: | The aim of this study was to describe the nature and prevalence of hearing loss in Fabry disease (McKusick 301500), a rare X-linked lysosomal storage disorder, and its response to enzyme replacement therapy with agalsidase alfa. Fifteen hemizygous male Fabry patients (aged 25-49 years) were randomized to receive placebo or enzyme replacement therapy for 6 months; all have received open-label enzyme replacement therapy for an additional 24 months thus far. Pure-tone audiometry, impedance audiometry and otoacoustic emission testing were performed at 0 (baseline), 6, 18 and 30 months. Four patients (27%) had bilateral and 7 (47%) had unilateral high-frequency sensorineural hearing loss (SNHL). Two (13%) had unilateral middle ear effusions with conductive losses persisting beyond 6 months. Only 3 (20%) had normal hearing. High-frequency SNHL deteriorated over the first 6 months in both placebo and active treatment groups by a median 4.3 dB ( p =0.002, Wilcoxon matched pairs). This hearing loss subsequently improved above baseline by 2.1 dB at 18 months ( p =0.02) and by 4.9 dB at 30 months ( p =0.004). In conclusion, significant hearing loss, usually high-frequency SNHL, is a common manifestation of Fabry disease in adults. alpha-Galactosidase A replacement therapy with agalsidase alfa appears to reverse the hearing deterioration in these patients. This improvement is gradual, however, suggesting the need for long-term enzyme replacement therapy. |
| Databáze: | OpenAIRE |
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