前庭导水管扩大的听力学临床表现多样性的产生机制

李佳楠; 汪蓉; 庄博翔

doi:10.3969/j.issn.1672-4933.2025.01.001

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前庭导水管扩大的听力学临床表现多样性的产生机制

专家笔谈 | 更新时间：2025-02-25

- 前庭导水管扩大的听力学临床表现多样性的产生机制
- The Mechanisms Generating the Diversity of Audiologic Clinical Manifestations of Enlarged Vestibular Aqueduct
- 中国听力语言康复科学杂志 2025年23卷第1期页码：1-4
- 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：
  
  [ "李佳楠博士副主任医师；研究方向：耳聋、耳显微外科、人工耳蜗植入、小儿耳鼻喉，硕士研究生导师。解放军总医院耳鼻咽喉头颈外科医学部听觉植入科主任、听觉植入中心负责人、耳外科副主任。美国迈阿密大学人工耳蜗中心、澳大利亚国家听觉研究院访问学者。中华医学会耳鼻咽喉头颈外科学分会青委会副主委。多家中英文学术杂志编委。2010年开始负责解放军总医院听觉植入中心工作，建立包括术前评估、微创人工耳蜗植入及术后调试、言语康复、遗传咨询的系统诊疗模式。2020年组建听觉植入科并担任科室主任，开展了大量疑难复杂病例的临床诊疗和新技术新业务。主持国家科技部重点研发项目课题、国家自然科学基金、军队和北京市课题10余项，发表论文100余篇。享受军队优秀专业技术人才二类岗位津贴。 " ]
- 基金信息：
  
  国家重点研发计划“基因精准编辑耳聋猪模型表现评价与数据库建立”(2021YFF0702302)
- DOI：10.3969/j.issn.1672-4933.2025.01.001
  中图分类号： R764
- 收稿日期：2024-09-25，
  
  纸质出版日期：2025-01-15
- 稿件说明：
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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.

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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 .

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