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
{"title":"感觉神经性听力损失在法布里病筛查中的作用是什么?","authors":"Ekin Yiğit Köroğlu,&nbsp;Asena Gökçay Canpolat,&nbsp;Suna Yılmaz,&nbsp;Özgür Demir","doi":"10.4274/tao.2023.2023-3-10","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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 <i>GLA</i> gene. In females, only genetic testing was performed.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":44240,"journal":{"name":"Turkish Archives of Otorhinolaryngology","volume":"61 2","pages":"52-57"},"PeriodicalIF":0.7000,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/63/0c/tao-61-52.PMC10506525.pdf","citationCount":"0","resultStr":"{\"title\":\"What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?\",\"authors\":\"Ekin Yiğit Köroğlu,&nbsp;Asena Gökçay Canpolat,&nbsp;Suna Yılmaz,&nbsp;Özgür Demir\",\"doi\":\"10.4274/tao.2023.2023-3-10\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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 <i>GLA</i> gene. In females, only genetic testing was performed.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":44240,\"journal\":{\"name\":\"Turkish Archives of Otorhinolaryngology\",\"volume\":\"61 2\",\"pages\":\"52-57\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2023-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/63/0c/tao-61-52.PMC10506525.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Turkish Archives of Otorhinolaryngology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4274/tao.2023.2023-3-10\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/9/18 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"OTORHINOLARYNGOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Turkish Archives of Otorhinolaryngology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4274/tao.2023.2023-3-10","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/9/18 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"OTORHINOLARYNGOLOGY","Score":null,"Total":0}
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。

摘要图片

摘要图片

摘要图片

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Evaluating the Performance of ChatGPT, Gemini, and Bing Compared with Resident Surgeons in the Otorhinolaryngology In-service Training Examination. Investigation of Acoustic Voice Characteristics of Individuals Diagnosed with Muscle Tension Dysphonia. Management of Disseminated Rhinosporidiosis: Experience From a Single Tertiary Institution. Salvage Endoscopic Nasopharyngectomy for Recurrent Nasopharyngeal Cancer: an Institutional Experience. Optimizing Surgical Management of Acute Invasive Fungal Sinusitis.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1