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在患有CDH23突变引起的非综合征性听力损失的患者中,耳植入前的静脉功能:回顾性病例系列

Kento Koda¹, Aki Sakata¹, Hajime Koyama¹

¹Department of Otolaryngology and Head and Neck Surgery, University of Tokyo, Bunkyo-ku, Tokyo, Japan.

Acta oto-laryngologica

|March 13, 2026

概括

静脉管功能障碍影响超过一半的CDH23听力损失患者在耳植入前. 术前前庭评估对于管理这些CDH23突变至关重要.

科学领域:

耳鼻喉科耳鼻喉科耳鼻喉科
遗传学遗传学是一个
神经学神经学

背景情况:

在CDH23相关的非综合征性听力损失中,静脉管的参与尚未完全理解,尤其是在耳植入之前.
CDH23突变是已知的严重到严重的非综合征性听力损失的原因.

研究的目的:

在耳植入之前,评估CDH23突变患者的前置功能.
为了确定 vestibular 功能障碍在这个特定的患者群体中的患病率.

主要方法:

七名患有CDH23突变的患者进行耳植入后期评估.
使用热量测试,ACS-cVEMP,BCV-oVEMP,以及用于前庭评估的减湿旋转测试.
根据患者的年龄选择了测试.

主要成果:

在7名患者中有4名 (57.1%) 发现了单侧前庭功能障碍.
具体发现包括减少的热量反应 (28.6%),减少的缓冲旋转反应 (25%),减少或不存在的ACS-cVEMP反应 (14.3%),以及不存在的BCV-oVEMP反应 (33.3%).
六名患者有误解突变,一名患者在CDH23.23中有复合异构基因突变.

结论:

在耳植入前,超过一半的CDH23相关聋患者表现出单侧前庭功能障碍.
在患有CDH23突变的患者中,术前前庭评估具有临床意义.
这一发现有助于理解CDH23突变对听觉和前庭系统的综合影响.

关键词:

在CDH23突变中.垂体功能测试试验垂体功能测试试验耳植入器的植入器听力损失听力损失是什么没有综合征的聋.单侧前庭病变 (unilateral vestibulopathy) 是一种单侧的前庭病变.

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