感觉神经性听力损失在法布里病筛查中的作用是什么?

IF 0.7 Q4 OTORHINOLARYNGOLOGY
Turkish Archives of Otorhinolaryngology Pub Date : 2023-06-01 Epub Date: 2023-09-18 DOI:10.4274/tao.2023.2023-3-10
Ekin Yiğit Köroğlu, Asena Gökçay Canpolat, Suna Yılmaz, Özgür Demir
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引用次数: 0

摘要

目的:法布里病是一种罕见的由α-半乳糖苷酶a(α-GLA)缺乏引起的遗传性溶酶体贮积病。尽管感觉神经性听力损失在法布里病中很常见,但文献中没有研究对法布里病的感觉神经性听觉损失人群进行筛查。在这项研究中,我们旨在筛选一组被诊断为感音神经性听力损失并接受法布里病听力测试的患者。方法:纳入2019年7月至2020年1月期间被诊断为特发性听力损失的168名18-75岁患者。对男性患者的α-GLA酶活性进行分析。对酶活性低的患者进行鉴定,并对GLA基因突变进行基因检测。在雌性中,只进行了基因检测。结果:84名女性和84名男性被纳入研究。84例男性患者中有11例(13%)的α-GLA酶活性较低。在这11名患者中,有一人患有法布里病的基因突变。此外,该指数患者的四名亲属在家庭筛查中被诊断为法布里病。在84名女性患者中的一名患者中也发现了GLA基因突变。因此,在我们的168名患者中,有两名(1.2%)通过酶活性筛查和基因检测被诊断为法布里病。结论:我们的研究表明,在没有其他特定发现的特发性感音神经性听力损失患者中筛查Fabry病可能是检测新病例的有用策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?

What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?

What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?

What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?

Objective: Fabry disease is a rare hereditary lysosomal storage disease caused by the deficiency of alpha-galactosidase A (α-GLA). Although sensorineural hearing loss is common in Fabry disease, there are no studies in the literature that have screened a population with sensorineural hearing loss for Fabry disease. In this study, we aimed to screen a group of patients who were diagnosed with sensorineural hearing loss and underwent a hearing test for Fabry disease.

Methods: One hundred sixty eight patients who were aged 18-75 years and diagnosed with idiopathic hearing loss between July 2019 and January 2020 were included. In male patients, α-GLA enzyme activity was analyzed. Patients with low enzyme activity were identified and genetic testing was performed for mutations in the GLA gene. In females, only genetic testing was performed.

Results: Eighty four women and 84 men were included in the study. α-GLA enzyme activity was low in 11 of the 84 male patients (13%). One out of these 11 patients had a gene mutation for Fabry disease. Moreover, four relatives of this index patient were diagnosed with Fabry disease in family screening. GLA gene mutation was also found in one of the 84 female patients. Consequently, two (1.2%) of our 168 patients were diagnosed with Fabry disease by screening with enzyme activity and genetic testing.

Conclusion: Our study showed that screening for Fabry disease in patients with idiopathic sensorineural hearing loss without other specific findings might be a useful strategy for detecting new cases.

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