Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11120/21:43921336 RIV/61383082:_____/21:00001048 RIV/00216208:11110/21:10425954 RIV/00064203:_____/21:10425954 a 3 dalších

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30100 - Basic medicine

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2021

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Applied Biomedicine

ISSN

1214-021X

e-ISSN

—

Svazek periodika

19

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

5

Strana od-do

57-61

Kód UT WoS článku

000625384900006

EID výsledku v databázi Scopus

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