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[综合征性听力损失的诊断与治疗综述]

[A review of diagnosis and treatment of syndromic hearing loss].

作者信息

Liu Mengting, Zhang Tianhong

出版信息

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Mar;35(3):285-288. doi: 10.13201/j.issn.2096-7993.2021.03.022.

Abstract

Hereditary deafness is divided into syndromic hearing loss and non-syndromic hearing loss according to whether it is accompanied by other system dysfunction. The early identification and diagnosis of syndromic hearing loss is very important, including clinical and molecular diagnosis. Early diagnosis can predict the progress of hearing loss, other systemic disorders and guide treatment. Thus otolaryngologists are likely to become the first doctors to treat children with syndromic hearing loss, it is more necessary to master the clinical and molecular diagnosis methods of common syndromic hearing loss, and cooperate with doctors of other relevant departments for early intervention and treatment. Therefore, this article reviewed the common features, molecular diagnostic methods and treatment strategies for syndromic hearing loss.

摘要

遗传性耳聋根据是否伴有其他系统功能障碍分为综合征性听力损失和非综合征性听力损失。综合征性听力损失的早期识别和诊断非常重要,包括临床诊断和分子诊断。早期诊断可以预测听力损失的进展、其他全身性疾病并指导治疗。因此,耳鼻喉科医生很可能成为治疗综合征性听力损失儿童的首诊医生,更有必要掌握常见综合征性听力损失的临床和分子诊断方法,并与其他相关科室的医生合作进行早期干预和治疗。因此,本文综述了综合征性听力损失的常见特征、分子诊断方法和治疗策略。

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本文引用的文献

1
Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.
J Pediatr Genet. 2018 Mar;7(1):1-8. doi: 10.1055/s-0037-1617454. Epub 2018 Jan 4.
2
Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents.
Nature. 2018 Jan 11;553(7687):217-221. doi: 10.1038/nature25164. Epub 2017 Dec 20.
3
Emerging Gene Therapies for Genetic Hearing Loss.
J Assoc Res Otolaryngol. 2017 Oct;18(5):649-670. doi: 10.1007/s10162-017-0634-8. Epub 2017 Aug 16.
5
Outcomes of Late Implantation in Usher Syndrome Patients.
Int Arch Otorhinolaryngol. 2017 Apr;21(2):140-143. doi: 10.1055/s-0036-1583306. Epub 2016 May 4.
6
Health-Related Quality of Life Among Young Children With Cochlear Implants and Developmental Disabilities.
Ear Hear. 2017 Jul/Aug;38(4):399-408. doi: 10.1097/AUD.0000000000000410.
7
A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.
Genet Med. 2017 May;19(5):553-558. doi: 10.1038/gim.2016.142. Epub 2016 Sep 22.
8
is mutated in a distinct type of Usher syndrome.
J Med Genet. 2017 Mar;54(3):190-195. doi: 10.1136/jmedgenet-2016-104166. Epub 2016 Sep 14.
10
[Precise medicine of hereditary hearing loss].
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016 Jan;30(1):1-5.

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