HOLY, Richard, Tereza HLOŽKOVÁ, Klara PROCHAZKOVA, David KALFERT, Frantiska HYBNEROVA, Denisa EBELOVA, Berthold STREUBEL, Martin CHOVANEC, Břetislav GÁL, Ales LINHART a Jaromir ASTL. Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss. Journal of Applied Biomedicine. České Budějovice: Faculty of Health and Social Care, University of South Bohemia, 2021, roč. 19, č. 1, s. 57-61. ISSN 1214-021X. Dostupné z: https://dx.doi.org/10.32725/jab.2021.003. |
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@article{1773199, author = {Holy, Richard and Hložková, Tereza and Prochazkova, Klara and Kalfert, David and Hybnerova, Frantiska and Ebelova, Denisa and Streubel, Berthold and Chovanec, Martin and Gál, Břetislav and Linhart, Ales and Astl, Jaromir}, article_location = {České Budějovice}, article_number = {1}, doi = {http://dx.doi.org/10.32725/jab.2021.003}, keywords = {Alpha-galactosidase; Fabry disease; Screening; Sensorineural hearing loss; Tinnitus}, language = {eng}, issn = {1214-021X}, journal = {Journal of Applied Biomedicine}, title = {Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss}, url = {http://jab.zsf.jcu.cz/pdfs/jab/2021/01/06.pdf}, volume = {19}, year = {2021} }
TY - JOUR ID - 1773199 AU - Holy, Richard - Hložková, Tereza - Prochazkova, Klara - Kalfert, David - Hybnerova, Frantiska - Ebelova, Denisa - Streubel, Berthold - Chovanec, Martin - Gál, Břetislav - Linhart, Ales - Astl, Jaromir PY - 2021 TI - Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss JF - Journal of Applied Biomedicine VL - 19 IS - 1 SP - 57-61 EP - 57-61 PB - Faculty of Health and Social Care, University of South Bohemia SN - 1214021X KW - Alpha-galactosidase KW - Fabry disease KW - Screening KW - Sensorineural hearing loss KW - Tinnitus UR - http://jab.zsf.jcu.cz/pdfs/jab/2021/01/06.pdf N2 - Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic mutations in the alpha-galactosidase A (AGALA) encoding gene region. This rare disease affects several organs induding the cochlea-vestibular system. Tinnitus and sensorineural hearing loss (SNHL) are reported among otoneurological symptoms. Early and correct diagnosis of FD is important with a view to available therapy. The aim of the study was to screen for alpha-galactosidase deficiency in men with tinnitus/SNHL. A prospective multicentric study induding consecutive patients with SNHL confirmed by tone audiometry or tinnitus evaluated (10/2016-8/2019). The diagnosis of AGALA deficiency was done by dry blood spot method using a threshold of 1.2 mu mol/l/h. Only men aged 18-60 were induded. 181 patients were subject to evaluation. SNHL was reported in 126 (70%) patients, 50 (28%) patients had unilateral, 76 (42%) patients had bilateral SNHL. Tinnitus was found in 161 (89%) patients, unilateral in 96 (53%) and bilateral in 65 (36%) patients. Suspected FD was not detected in any patient; alpha-galactosidase The AGALA values ranged 1.5-8.8 mu mol/l/h, an average of 3.4 mu mol/l/h. None of the 181 patients participating in the study had AGALA levels below the threshold 1.2 mu mol/l/h. The occurrence of tinnitus and sensorineural hearing loss in men appears to be an irrelevant clinical sign for FD systematic screening. ER -
HOLY, Richard, Tereza HLOŽKOVÁ, Klara PROCHAZKOVA, David KALFERT, Frantiska HYBNEROVA, Denisa EBELOVA, Berthold STREUBEL, Martin CHOVANEC, Břetislav GÁL, Ales LINHART a Jaromir ASTL. Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss. \textit{Journal of Applied Biomedicine}. České Budějovice: Faculty of Health and Social Care, University of South Bohemia, 2021, roč.~19, č.~1, s.~57-61. ISSN~1214-021X. Dostupné z: https://dx.doi.org/10.32725/jab.2021.003.
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