综合征性耳聋的诊断与治疗策略

刘梦婷, 张天虹. 综合征性耳聋的诊断与治疗策略[J]. 临床耳鼻咽喉头颈外科杂志, 2021, 35(3): 285-288. doi: 10.13201/j.issn.2096-7993.2021.03.022
引用本文: 刘梦婷, 张天虹. 综合征性耳聋的诊断与治疗策略[J]. 临床耳鼻咽喉头颈外科杂志, 2021, 35(3): 285-288. doi: 10.13201/j.issn.2096-7993.2021.03.022
LIU Mengting, ZHANG Tianhong. A review of diagnosis and treatment of syndromic hearing loss[J]. J Clin Otorhinolaryngol Head Neck Surg, 2021, 35(3): 285-288. doi: 10.13201/j.issn.2096-7993.2021.03.022
Citation: LIU Mengting, ZHANG Tianhong. A review of diagnosis and treatment of syndromic hearing loss[J]. J Clin Otorhinolaryngol Head Neck Surg, 2021, 35(3): 285-288. doi: 10.13201/j.issn.2096-7993.2021.03.022

综合征性耳聋的诊断与治疗策略

  • 基金项目:
    哈医大一院科研创新基金-留学归国基金(No:2018L008)
详细信息
    通讯作者: 张天虹,E-mail:zth3856@126.com

    审校者

  • 中图分类号: R764.43

A review of diagnosis and treatment of syndromic hearing loss

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  • [1]

    孙喜斌, 魏志云, 于丽玫, 等. 中国听力残疾人群现状及致残原因分析[J]. 中华流行病学杂志, 2008, 29(7): 643-646. doi: 10.3321/j.issn:0254-6450.2008.07.006

    [2]

    Morton CC, Nance WE. Newborn hearing screening——a silent revolution[J]. N Engl J Med, 2006, 354(20): 2151-2164. doi: 10.1056/NEJMra050700

    [3]

    袁永一, 戴朴. 遗传性聋的精准医疗[J]. 临床耳鼻咽喉头颈外科杂志, 2016, 30(1): 1-5. https://www.cnki.com.cn/Article/CJFDTOTAL-LCEH201601001.htm

    [4]

    李淑娟, 刘晓雯, 陈兴健, 等. 常见综合征型耳聋临床表型及相关基因研究进展[J]. 中华耳科学杂志, 2018, 16(3): 375-381. doi: 10.3969/j.issn.1672-2922.2018.03.023

    [5]

    Wake M, Ching TYC, Wirth K, et al. Population Outcomes of Three Approaches to Detection of Congenital Hearing Loss[J]. Pediatrics, 2016, 137(1): e20151722. doi: 10.1542/peds.2015-1722

    [6]

    Cohen M, Phillips JA. Genetic approach to evaluation of hearing loss[J]. Otolaryngol Clin North Am, 2012, 45(1): 25-39. doi: 10.1016/j.otc.2011.08.015

    [7]

    Song J, Feng Y, Acke FR, et al. Hearing loss in Waardenburg syndrome: a systematic review[J]. Clin Genet, 2016, 89(4): 416-425. doi: 10.1111/cge.12631

    [8]

    Huang BY, Zdanski C, Castillo M. Pediatric sensorineural hearing loss, part 2: syndromic and acquired causes[J]. AJNR Am J Neuroradiol, 2012, 33(3): 399-406. doi: 10.3174/ajnr.A2499

    [9]

    Zazo Seco C, Serrão de Castro L, W van Nierop J, et al. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2[J]. Am J Hum Genet, 2015, 97(5): 647-660. doi: 10.1016/j.ajhg.2015.09.011

    [10]

    Chang EH, Menezes M, Meyer NC, et al. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences[J]. Hum Mutat, 2004, 23(6): 582-589. doi: 10.1002/humu.20048

    [11]

    Gettelfinger JD, Dahl JP. Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics[J]. J Pediatr Genet, 2018, 7(1): 1-8. doi: 10.1055/s-0037-1617454

    [12]

    Van Hauwe P, Everett LA, Coucke P, et al. Two frequent missense mutations in Pendred syndrome[J]. Hum Mol Genet, 1998, 7(7): 1099-1104. doi: 10.1093/hmg/7.7.1099

    [13]

    Fugazzola L, Mannavola D, Cerutti n, et al. Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome[J]. J Clin Endocrinol Metab, 2000, 85(7): 2469-2475.

    [14]

    Fraser GR. ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE(PENDRED'S SYNDROME)A STUDY OF 207 FAMILIES[J]. Ann Hum Genet, 1965, 28: 201-249.

    [15]

    Royaux IE, Suzuki K, Mori A, et al. Pendrin, the protein encoded by the Pendred syndrome gene(PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells[J]. Endocrinology, 2000, 141(2): 839-845. doi: 10.1210/endo.141.2.7303

    [16]

    Bizhanova A, Kopp P. Genetics and phenomics of Pendred syndrome[J]. Mol Cell Endocrinol, 2010, 322(1/2): 83-90.

    [17]

    Duncan E, Brown M, Shore EM. The revolution in human monogenic disease mapping[J]. Genes(Basel), 2014, 5(3): 792-803.

    [18]

    刘亚兰, 桑树山, 刘学忠. 遗传性聋基因诊断策略进展[J]. 听力学及言语疾病杂志, 2018, 26(6): 666-672. doi: 10.3969/j.issn.1006-7299.2018.06.025

    [19]

    Ginn SL, Alexander IE, Edelstein ML, et al. Gene therapy clinical trials worldwide to 2012-an update[J]. J Gene Med, 2013, 15(2): 65-77. doi: 10.1002/jgm.2698

    [20]

    Chen DY, Liu XF, Lin XJ, et al. A dominant variant in DMXL2 is linked to nonsyndromic hearing loss[J]. Genet Med, 2017, 19(5): 553-558. doi: 10.1038/gim.2016.142

    [21]

    Fu Q, Xu M, Chen X, et al. CEP78 is mutated in a distinct type of Usher syndrome[J]. J Med Genet, 2017, 54(3): 190-195. doi: 10.1136/jmedgenet-2016-104166

    [22]

    Wang QJ, Xue Y, Zhang Y, et al. Genetic basis of Y-linked hearing impairment[J]. Am J Hum Genet, 2013, 92(2): 301-306. doi: 10.1016/j.ajhg.2012.12.015

    [23]

    王翠翠, 袁慧军. 高通量测序技术在遗传性耳聋研究中的应用及研究进展[J]. 遗传, 2017, 39(3): 208-219. https://www.cnki.com.cn/Article/CJFDTOTAL-YCZZ201703005.htm

    [24]

    Zaidman-Zait A, Curle D, Jamieson JR, et al. Health-Related Quality of Life Among Young Children With Cochlear Implants and Developmental Disabilities[J]. Ear Hear, 2017, 38(4): 399-408.

    [25]

    Eftekharian A, Mahani MH. Jervell and Lange-Nielsen syndrome in cochlear implanted patients: our experience and a review of literature[J]. Int J Pediatr Otorhinolaryngol, 2015, 79(9): 1544-1547. doi: 10.1016/j.ijporl.2015.07.012

    [26]

    Hoshino ACH, Echegoyen A, et al. Outcomes of Late Implantation in Usher Syndrome Patients[J]. Int Arch Otorhinolaryngol, 2017, 21(2): 140-143. doi: 10.1055/s-0036-1583306

    [27]

    Mey K, Bille M, Cayé-Thomasen P. Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct-clinical challenges, surgical results, and complications[J]. Acta Otolaryngol, 2016, 136(10): 1064-1068. doi: 10.1080/00016489.2016.1185538

    [28]

    Van Nierop JWI, Huinck WJ, Pennings RJE, et al. Patients with Pendred syndrome: is cochlear implantation beneficial?[J]. Clin Otolaryngol, 2016, 41(4): 386-394. doi: 10.1111/coa.12532

    [29]

    顾湘, 郭维维, 杨仕明. 基因治疗与遗传性耳聋[J]. 中国听力语言康复科学杂志, 2019, 17(4): 275-279. doi: 10.3969/j.issn.1672-4933.2019.04.009

    [30]

    Akil O, Seal RP, Burke K, et al. Restoration of hearing in the VGLUT3 knockout mouse using virally mediated gene therapy[J]. Neuron, 2012, 75(2): 283-293. doi: 10.1016/j.neuron.2012.05.019

    [31]

    Gao X, Tao Y, Lamas V, et al. Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents[J]. Nature, 2018, 553(7687): 217-221. doi: 10.1038/nature25164

    [32]

    Ahmed H, Shubina, Holt J. Emerging Gene Therapies for Genetic Hearing Loss[J]. J Assoc Res Otolaryngol, 2017, 18(5): 649-670.

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出版历程
收稿日期:  2020-02-24
刊出日期:  2021-03-05

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