SLC26A4基因突变致前庭水管扩大听力损失机制的研究进展

Advances in Research on Mechanisms Underlying Enlarged Vestibular Aqueduct Associated Hearing Loss Caused by SLC26A4 Gene Mutation

前庭水管扩大(Enlarged Vestibular Aqueduct,EVA)是儿童感音神经性听力损失最常见的内耳畸形之一。EVA患者通常出生后听力波动并呈现整体下降的趋势,部分患者在头部轻度创伤或气压伤后出现突发性耳聋。近年来,科学家们通过基因分析和小鼠模型建立等方法对前庭水管扩张相关听力损失的病理生理机制进行了一系列研究,显示内淋巴囊吸收功能障碍引起的中阶扩大是耳聋非常重要的病理改变,内耳蜗电位的波动和下降是耳聋的直接原因。进一步的研究仍将继续,以帮助我们为前庭水管扩大的耳聋患者提供更有效的治疗方案。

Enlarged vestibular aqueduct(EVA)is one of the most common inner ear malformations associated with sensorineural hearing loss in children.Generally,hearing loss in patients with EVA can fluctuate,with overall downward progression.In some patients,sudden hearing loss can be precipitated by minor head trauma or barotrauma.Recently,a series of studies on pathophysiological mechanisms of EVA related hearing loss have been conducted involving genetic analysis and establishment of mouse models.Vestibular aqueduct enlargement caused by failure of fluid absorption in the endolymphatic sac plays an important role in the progress of EVA related hearing loss,and the direct cause of deafness is the fluctuation and decline of the cochlear potentials.Further research continues.With the results of these studies,more effective treatment strategies can be developed to preserve hearing in patients with enlarged vestibular aqueducts.