The Mechanisms Generating the Diversity of Audiologic Clinical Manifestations of Enlarged Vestibular Aqueduct

LI Jia-nan; WANG rong; ZHUANG Bo-xiang

doi:10.3969/j.issn.1672-4933.2025.01.001

您当前的位置：

首页 >

文章列表页 >

The Mechanisms Generating the Diversity of Audiologic Clinical Manifestations of Enlarged Vestibular Aqueduct

Expert Forum | 更新时间：2026-07-11

- The Mechanisms Generating the Diversity of Audiologic Clinical Manifestations of Enlarged Vestibular Aqueduct
- Chinese Scientific Journal of Hearing and Speech Rehabilitation Vol. 23, Issue 1, Pages: 1-4(2025)
- 作者机构：
  
  解放军总医院第六医学中心耳鼻咽喉头颈外科医学部/国家耳鼻咽喉疾病临床医学研究中心/听觉与平衡觉全国重点实验室北京100080
- 作者简介：
- 基金信息：
- DOI：10.3969/j.issn.1672-4933.2025.01.001
  CLC： R764
- Received：25 September 2024，
  
  Published：15 January 2025
- 稿件说明：
移动端阅览
李佳楠,汪蓉,庄博翔.前庭导水管扩大的听力学临床表现多样性的产生机制[J].中国听力语言康复科学杂志,2025,23(01):1-4.

LI Jia-nan,WANG rong,ZHUANG Bo-xiang.The Mechanisms Generating the Diversity of Audiologic Clinical Manifestations of Enlarged Vestibular Aqueduct[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2025,23(01):1-4.
李佳楠,汪蓉,庄博翔.前庭导水管扩大的听力学临床表现多样性的产生机制[J].中国听力语言康复科学杂志,2025,23(01):1-4. DOI： 10.3969/j.issn.1672-4933.2025.01.001.

LI Jia-nan,WANG rong,ZHUANG Bo-xiang.The Mechanisms Generating the Diversity of Audiologic Clinical Manifestations of Enlarged Vestibular Aqueduct[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2025,23(01):1-4. DOI： 10.3969/j.issn.1672-4933.2025.01.001.

摘要

前庭导水管扩大（enlarged vestibular aqueduct，EVA）是常染色体隐性遗传，听力学临床表现个体差异性较大，听力损失程度从轻度到极重度不等，可表现迟发性、波动性或突发性感音神经性听力损失，也可表现为混合性听力损失，伴有耳鸣、眩晕、平衡障碍等症状。本文描述前庭导水管扩大听力学临床表现多样性，介绍相关病理生理机制，阐述前庭导水管扩大患者临床表现多样性的主要影响因素。

Abstract

Enlarged vestibular aqueduct (EVA) is an autosomal recessive disease

with a wide range of clinical manifestations in audiology. The degrees of hearing loss range from mild to extremely severe

and can be characterized by delayed sensorineural hearing loss

fluctuating sensorineural hearing loss

or sudden sensorineural hearing loss

or mixed hearing loss

with tinnitus

vertigo

and balance disorders. This article describes the pathophysiologic mechanisms underlying the diversity of clinical manifestations of EVA audiology

and describes the main factors that current research has identified as influencing the clinical manifestations and progression of EVA.

关键词

Keywords

references

Aimoni C , Ciorba A , Cerritelli L , et al . Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents [J ] . Int J Pediatr Otorhinolaryngol 2017 ,( 10 ): 254 - 258 .

Griffith AJ , Wangemann P . Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models [J ] . Hear Res 2011 , 281 ( 1-2 ): 11 - 17 .

Royaux IESM , Wall LP , Karniski , et al . Pendrin encoded by the pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion [J ] . Proc Natl Acad Sci USA , 2001 , 98 ( 7 ): 4221 - 4226 .

Kim HM , Wangemann P . Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin [J ] . PLoS One , 2011 , 6 ( 3 ): e17949 .

Miyagawa M , Nishio SY , Usami S . Deafness Gene Study Consortium. Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study [J ] . J Hum Genet , 2014 , 59 ( 5 ): 262 - 268 .

Taylor JP , Metcalfe RA , Watson PF , et al . Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome [J ] . Clin.Endocrinol.Metab , 2002 ,( 87 ): 1778 - 1784 .

Mey K , Bille M , Rye Rasmussen SH , et al . The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct [J ] . Otol Neurotol , 2019 , 40 ( 3 ): e178 - e185 .

Lee HJ , Jung J , Shin JW , et al . Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations [J ] . ClinGenet , 2014 , 86 ( 3 ): 270 - 275 .

Forli F , Lazzerini F , Auletta G , et al . Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features [J ] . Eur Arch Otorhinolaryngol , 2021 , 278 ( 7 ): 2305 - 2312 .

Rose J , Muskett JA , King KA , et al . Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4 [J ] . Laryngoscope , 2017 , 127 ( 7 ): E238 - E243 .

Rah YC , Kim AR , Koo JW , et al . Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes [J ] . Laryngoscope , 2015 , 125 ( 6 ): E216 - 222 .

Okamoto Y , Mutai H , Nakano A , et al . Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss [J ] . Laryngoscope , 2014 , 124 ( 4 ): E134 - 140 .

于晓宇 , 林妘 , 许军 , 等 . 135例大前庭导水管耳聋患者SLC26A4基因突变分析 [J ] . 中华耳科学杂志 , 2018 , 11 ( 2 ): 160 - 164 .

Yu XY , Lin Y , Xu J , et al . Analysis of SLC26A4 gene mutations in 135 patients with large vestibular aqueduct deafness [J ] . Chinese Journal of Otology , 2018 , 11 ( 2 ): 160 - 164 .

Jabba SV , Oelke A , Singh R , et al . Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model [J ] . BMC , 2006 , ( 4 ): 37 - 37 .

Henderson RB , Hobbs JA , Mathies M , et al . Rapid recruitmentof inflammatory monocytes is independent of neutrophilmigration [J ] . Blood , 2003 , ( 102 ): 328 - 335 .

Hirose K , Discolo CM , Keasler JR , et al . Mononuclear phagocytes migrate into the murine cochlea after acoustictrauma [J ] . J Comp Neurol , 2005 , ( 489 ): 180 - 194 .

Royaux IE , Belyants IA , Wu T , et al . Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome [J ] . J Assoc Res Otolaryngol , 2003 , 4 ( 3 ): 394 - 404 .

Yang T , Gurrola JG , Wu H , et al . Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome [J ] . Am J Hum Genet , 2009 , 84 ( 5 ): 651 - 657 .

Nishio A , Ito T , Cheng H , et al . Slc26a4 expression prevents fluctuation of hearing in a mouse model of large vestibular aqueduct syndrome [J ] . Neuroscience , 2016 ,( 329 ): 74 - 82 .

Merchant SN , Nakajima HH , Halpin C , et al . Clinical investigation and mechanism of air-bone gaps in large vestibular aqueduct syndrome [J ] . Ann Otol Rhinol Laryngol , 2007 , 116 ( 7 ): 532 - 541 .

Van Beck J , Chinnadurai S , Morrison AK , et al . Correlation of air-bone gap and size of Enlarged Vestibular Aqueduct in children [J ] . Int J Pediatr Otorhinolaryngol , 2020 , ( 132 ): 109909 .

Mimura T , Sato E , Sugiura M , et al . Hearing loss in patients with enlarged vestibular aqueduct: air-bone gap and audiological Bing test [J ] . Int J Audiol , 2005 , 44 : 466 - 469 .

Merchant SN , Rosowski JJ . Conductive hearing loss caused by third-window lesions of the inner ear [J ] . Otol Neurotol , 2008 , 29 ( 3 ): 282 - 289 .

柯朝阳 . 内耳性传导聋-内耳第三窗致病机制及相关疾病 [J ] . 罕少疾病杂志 , 2015 , 22 ( 1 ): 9 - 10 .

Seo YJ , Kim J , Choi JY . Correlation of vestibular aqueduct size with air-bone gap in enlarged vestibular aqueduct syndrome [J ] . Laryngoscope , 2016 , 126 ( 7 ): 1633 - 1638 .

King KA , Choi BY , Zalewski C , et al . SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with enlarged vestibular aqueduct [J ] . Laryngoscope , 2010 , 120 ( 2 ): 384 - 389 .

Sennaroglu L , Bajin MD . Classification and current management of inner ear malformations [J ] . Balkan Med J , 2017 , 34 ( 5 ): 397 - 411 .

Huang S , Han D , Yuan Y , et al . Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct [J ] . J Transl Med , 2011 , 9 ( 1 ): 167 - 167 .

Ruthberg J , Ascha MS , Kocharyan A , et al . Sex-specific enlarged vestibular aqueduct morphology and audiometry [J ] . Am J Otolaryngol , 2019 , 40 ( 4 ): 473 - 477 .

Han JW , Wang L , Zhao H , et al . Biomechanical analysis of the clinical characteristics of enlarged vestibular aqueduct syndrome with Mondini malformation [J ] . Acta Otolaryngol . 2020 , 140 ( 10 ): 813 - 817 .

Colvin IB , Beale T , Harrop-Griffiths K . Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts: relationship to radiologic findings and Pendred syndrome diagnosis [J ] . Laryngo scope , 2006 , 116 ( 11 ): 2027 - 2036 .

Ascha MS , Manzoor N , Gupta A , et al . Vestibular Aqueduct Midpoint Width and Hearing Loss in Patients With an Enlarged Vestibular Aqueduct [J ] . JAMA Otolaryngol Head Neck Surg , 2017 , 143 ( 6 ): 601 - 608 .

Views

322

下载量

CSCD

Alert me when the article has been cited

提交

Tools

Publicity Resources

Study on the Current Status and Influencing Factors of Hearing Loss among Elderly Individuals in Communities of Urumqi City

Mental Health Status and Influencing Factors in Elderly Patients with Hearing Impairment

Clinical Evaluation and Rehabilitation Effect Analysis of Children with Cochlear Implantation

The Current Situation and Influencing Factors of Hearing Loss in Children with Autism Spectrum Disorder

An Analysis of Characteristics of Cognitive Functions of Patients with Hearing Impairment and Influencing Factors

Related Author

XIA Hui-ling

YAN Ping

ZHANG Li-juan

LEI Jing-mei

ZHANG Xue-hong

WANG Shu-min

ZHANG Xiao-yuan

LI Xiao

Related Institution

新疆区域人群疾病与健康照护研究中心

新疆维吾尔自治区中医院幸福路分院

新疆医科大学护理学院

大连市妇女儿童医疗中心

解放军总医院第一医学中心

⁰