中国听力语言康复科学杂志2025,Vol.23Issue(1) :8-11.DOI:10.3969/j.issn.1672-4933.2025.01.003

Townes-Brocks综合征疾病特征与听力干预方式的选择

Characteristics of Townes-Brocks Syndrome and Strategies for The Management of Hearing Loss

王丹丹 康烁烁 庄博翔 李佳楠
中国听力语言康复科学杂志2025,Vol.23Issue(1) :8-11.DOI:10.3969/j.issn.1672-4933.2025.01.003

Townes-Brocks综合征疾病特征与听力干预方式的选择

Characteristics of Townes-Brocks Syndrome and Strategies for The Management of Hearing Loss

王丹丹 1康烁烁 1庄博翔 1李佳楠1
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作者信息

  • 1. 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 100853
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摘要

目的 探讨Townes-brocks syndrome(TBS综合征)患者的疾病特征,探讨如何针对听力下降的类型选择恰当的干预方式.方法 对TBS患者进行全面检查即对其全身的异常临床表型、化验及影像检查结果进行总结,评估并记录听力相关检查结果的异常.结果 结合全身多系统异常评估患者是否可耐受手术,根据听力相关检查结果制订恰当的干预方式.结论 TBS患者应结合具体的临床表型及听力下降的程度和类型,在助听器、听骨链重建手术、人工耳蜗植入等方法中选择恰当的方式进行治疗.

Abstract

Objective This study aims to investigate the disease characteristics of patients with Townes-Brocks Syndrome(TBS)and explore appropriate interventions for different types of hearing loss.Methods A comprehensive examination was conducted on TBS patients,summarizing the clinical phenotype,laboratory and imaging abnormalities,as well as evaluating and recording detailed results of hearing-related examinations.Results Based on the evaluation of systemic multi-system abnormalities'tolerability for surgery combined with hearing-related examination results,appropriate interventions were developed.Conclusion The optimal treatment for patients with TBS should be chosen based on the specific clinical phenotype and the degree and type of hearing loss.including hearing AIDS,auditory chain reconstruction surgery,and cochlear implant.

关键词

唐斯-布罗克斯综合征/听力损失/SALL1基因

Key words

Townes-Brocks syndromes/Hearing loss/SALL1 mutation

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出版年

2025
中国听力语言康复科学杂志
中国聋儿康复研究中心

中国听力语言康复科学杂志

影响因子:0.325
ISSN:1672-4933
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