Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse
| Autor: | Ans T. van der Ploeg, Joep H. J. Kamphoven, Martijn M. De Ruiter, Leon P. F. Winkel, Hans L Hoeve, Arnold J. J. Reuser, Chris I. De Zeeuw, Bert G.A. van Zanten, J. Bijman, Hannerieke M.P. van den Hout |
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| Přispěvatelé: | Pediatrics, Neurosciences, Otorhinolaryngology and Head and Neck Surgery, Clinical Genetics |
| Rok vydání: | 2004 |
| Předmět: |
Adult
Pathology medicine.medical_specialty Adolescent Hearing loss Glycogenosis Biology lcsh:RC321-571 Mice Glycogen storage disease type II medicine otorhinolaryngologic diseases Evoked Potentials Auditory Brain Stem Acid maltase deficiency Animals Humans Inner ear Child Hearing Loss lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry Cochlea Spiral ganglion Mice Knockout Glycogen Storage Disease Type II Enzyme replacement therapy Acid α-glucosidase medicine.disease Disease Models Animal Auditory brainstem response medicine.anatomical_structure Neurology Acoustic Stimulation Child Preschool Knockout mouse sense organs medicine.symptom Lysosomal |
| Zdroj: | Neurobiology of Disease, 16, 14-20. Academic Press Neurobiology of Disease, Vol 16, Iss 1, Pp 14-20 (2004) |
| ISSN: | 0969-9961 |
| Popis: | Hearing deficit occurs in several lysosomal storage disorders but has so far not been recognized as a symptom of Pompe's disease (glycogen storage disease type II). We discovered quite unexpectedly 30-90 dB hearing loss in four infants with Pompe's disease, who participated in a study on the safety and efficacy of enzyme replacement therapy. Three other patients with juvenile Pompe's disease did not have this symptom. The ABR (auditory brainstem response) thresholds but not the interpeak latency times were increased. This pointed to middle or inner ear pathology rather than to involvement of the central auditory nervous system. The possible occurrence of cochlear pathology was supported by the absence of oto-acoustic emissions. We investigated this hypothesis in a knockout mouse model of Pompe's disease and found glycogen storage in the inner and outer hair cells of the cochlea, the supporting cells, the stria vascularis, and the spiral ganglion cells. We conclude that cochlear pathology is the most likely cause of hearing loss in infantile Pompe's disease and possibly a characteristic feature of this clinical subtype. |
| Databáze: | OpenAIRE |
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