Informace o publikaci

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

Autoři

HOLY Richard HLOŽKOVÁ Tereza PROCHAZKOVA Klara KALFERT David HYBNEROVA Frantiska EBELOVA Denisa STREUBEL Berthold CHOVANEC Martin GÁL Břetislav LINHART Ales ASTL Jaromir

Rok publikování 2021
Druh Článek v odborném periodiku
Časopis / Zdroj Journal of Applied Biomedicine
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www http://jab.zsf.jcu.cz/pdfs/jab/2021/01/06.pdf
Doi http://dx.doi.org/10.32725/jab.2021.003
Klíčová slova Alpha-galactosidase; Fabry disease; Screening; Sensorineural hearing loss; Tinnitus
Popis 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.

Používáte starou verzi internetového prohlížeče. Doporučujeme aktualizovat Váš prohlížeč na nejnovější verzi.

Další info