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

J 2021

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

HOLY, Richard, Tereza HLOŽKOVÁ, Klara PROCHAZKOVA, David KALFERT, Frantiska HYBNEROVA et. al.

Základní údaje

Originální název

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

Autoři

HOLY, Richard (203 Česká republika), Tereza HLOŽKOVÁ (203 Česká republika, domácí), Klara PROCHAZKOVA (203 Česká republika), David KALFERT (203 Česká republika, garant), Frantiska HYBNEROVA (203 Česká republika), Denisa EBELOVA (203 Česká republika), Berthold STREUBEL (40 Rakousko), Martin CHOVANEC (203 Česká republika), Břetislav GÁL (203 Česká republika, domácí), Ales LINHART (203 Česká republika) a Jaromir ASTL (203 Česká republika)

Vydání

Journal of Applied Biomedicine, České Budějovice, Faculty of Health and Social Care, University of South Bohemia, 2021, 1214-021X

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30104 Pharmacology and pharmacy

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 0.500

Kód RIV

RIV/00216224:14110/21:00121693

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.32725/jab.2021.003

UT WoS

000625384900006

Klíčová slova anglicky

Alpha-galactosidase; Fabry disease; Screening; Sensorineural hearing loss; Tinnitus

Štítky

14110126, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 2. 6. 2021 13:15, Mgr. Tereza Miškechová

Anotace

V originále

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.

Citovat

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.

@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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