前庭水管扩大综合征是一种以先天性前庭水管扩大伴感音神经性聋、耳鸣、眩晕为主要特征的疾病、随着高分辨率CT的临床应用,其检出率明显增高,但病因及其发病机制不详。最近研究表明,前庭水管扩大综合征具有家族遗传倾向,遗传基因与Pendred综合征致病基因PDS位置重叠,并可检测出相关基因突变位点。本文就有关的主要研究进行综述。 Vestibular aqueduct syndrome is a congenital vestibular aqueduct with sensorineural hearing loss, tinnitus, dizziness as the main feature of the disease, with high-resolution CT clinical application, the detection rate was significantly increased, but the etiology and Its pathogenesis is unknown. Recent studies have shown that vestibular aqueduct syndrome has a familial genetic predisposition, genetic and Pendred syndrome PDS gene overlap position, and can detect the gene mutation sites. This article reviews the major studies.