关键词: COCH protein Meniere disease bilateral vestibulopathy causality hearing loss human

来  源:   DOI:10.3389/fneur.2023.1271012   PDF(Pubmed)

Abstract:
UNASSIGNED: The development of a vestibular implant has reached milestones and seems to be a promising therapeutic tool for bilateral vestibulopathy (BV). Given the former lack of therapeutic options for BV, the disease has received scant attention in the previous research literature. It is therefore of major importance to gain more insight into the underlying pathology of BV. Furthermore, as some research groups specifically use a combined vestibulo-cochlear implant, the size of the group of BV patients with associated hearing loss is of special interest.
UNASSIGNED: The study aimed to determine the definite and probable etiology in bilateral vestibulopathy (BV) patients and to report on their hearing status.
UNASSIGNED: This study involves multicenter retrospective study design.
UNASSIGNED: The research setting is at tertiary referral centers.
UNASSIGNED: Consecutive BV patients diagnosed at the Antwerp University Hospital between 2004 and 2018 at the Maastricht University Medical Center between 2002 and 2015 and at the Geneva University Hospital between 2013 and 2018, who met the BV diagnostic criteria of the Bárány Society.
UNASSIGNED: Primary interests were the etiology and hearing status of BV patients. Moreover, the data of vestibular tests were examined (caloric irrigation, rotatory chair tests, and video-head impulse test).
UNASSIGNED: The authors identified 315 BV patients, of whom 56% were male patients. Mean age at diagnosis was 58.6 ± 15.1 (range 7-91) years. The definite cause was determined in 37% of the patients and the probable cause in 26% of the patients. No cause was identified in 37% of BV patients. The largest subgroup included patients with genetic etiology (31%), most frequently COCH mutation. Only 21% of patients (n = 61) had bilateral normal hearing. Almost half of the patients (45%, n = 134) had profound hearing loss in at least one ear.
UNASSIGNED: BV is a heterogeneous condition, with over a third of cases remaining idiopathic, and nearly three-quarters affected by hearing loss. COCH mutation is the most common non-idiopathic cause of BV in our population. Only 21% of our BV patients presented with bilateral normal hearing.
摘要:
前庭植入物的开发已达到里程碑,似乎是双侧前庭病(BV)的有希望的治疗工具。鉴于以前缺乏BV的治疗选择,在以前的研究文献中,这种疾病很少受到关注。因此,更深入地了解BV的潜在病理是非常重要的。此外,因为一些研究小组特别使用前庭-耳蜗组合植入物,患有相关听力损失的BV患者组的规模特别令人感兴趣.
该研究旨在确定双侧前庭病(BV)患者的明确和可能病因,并报告其听力状况。
本研究涉及多中心回顾性研究设计。
研究设置在三级转诊中心。
2004年至2018年在安特卫普大学医院于2002年至2015年在马斯特里赫特大学医学中心以及2013年至2018年在日内瓦大学医院连续诊断出BV患者,这些患者符合BáránySociety的BV诊断标准。
主要兴趣是BV患者的病因和听力状况。此外,检查了前庭试验的数据(热量灌溉,旋转椅测试,和视频头脉冲测试)。
作者确定了315例BV患者,其中56%为男性患者。诊断时的平均年龄为58.6±15.1(范围7-91)岁。在37%的患者中确定了明确的原因,在26%的患者中确定了可能的原因。37%的BV患者没有发现病因。最大的亚组包括有遗传病因的患者(31%),最常见的是COCH突变。只有21%的患者(n=61)具有双侧正常听力。几乎一半的患者(45%,n=134)至少一只耳朵有严重的听力损失。
BV是一种异质条件,超过三分之一的病例仍然是特发性的,近四分之三的人受到听力损失的影响。COCH突变是我们人群中最常见的非特发性BV原因。我们的BV患者中只有21%的双侧听力正常。
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