Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F21%3A00075816" target="_blank" >RIV/00159816:_____/21:00075816 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/21:43921336 RIV/61383082:_____/21:00001048 RIV/00216208:11110/21:10425954 RIV/00064203:_____/21:10425954 and 3 more
Result on the web
<a href="https://jab.zsf.jcu.cz/artkey/jab-202101-0006_prevalence-of-fabry-disease-in-men-with-tinnitus-and-sensorineural-hearing-loss.php" target="_blank" >https://jab.zsf.jcu.cz/artkey/jab-202101-0006_prevalence-of-fabry-disease-in-men-with-tinnitus-and-sensorineural-hearing-loss.php</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.32725/jab.2021.003" target="_blank" >10.32725/jab.2021.003</a>
Alternative languages
Result language
angličtina
Original language name
Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30100 - Basic medicine
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Applied Biomedicine
ISSN
1214-021X
e-ISSN
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Volume of the periodical
19
Issue of the periodical within the volume
1
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
5
Pages from-to
57-61
UT code for WoS article
000625384900006
EID of the result in the Scopus database
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