一遗传性听神经病家系的听力学表型特征
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江苏省卫生厅医学科技发展基金资助项目(K200502);江苏省自然科学基金资助项目(BK2005144);江苏省“135工程”医学重点学科开放课题(WK0623)


Audiological findings in a hereditary auditory neuropathy pedigree
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    摘要:

    目的:探讨一个遗传性听神经病家系的听力学特征。方法:对23名家系成员(直系亲属21人,配偶2人)进行病史采集、体格检查及系统的听力学检测,包括纯音测听、声导抗、听性脑干反应(auditory brainstem response, ABR)、耳蜗微音器电位(cochlear microphonics, CMs)及诱发性耳声发射(evoked otoacoustic emissions, EOAEs)。对其中2名患者进行纯音听力随访。结果:7名家系成员符合听神经病诊断。其中 6人于9岁前发病,1~2年内快速发展为重度聋;纯音测听为双耳对称的重度~极重度感音神经性听力损失,高频下降型曲线;镫骨肌反射及ABR引不出,而CMs、EOAEs正常或基本正常。1例无听力障碍主诉,言语识别率正常;纯音测听显示双耳对称的轻度高频感音神经性听力损失,镫骨肌反射及ABR引出,EOAEs及CMs正常。2例患者纯音测听随访显示听力损失进行性加重。所有患者无耳聋外表现。结论: 该听神经病家系的听力学表型特征是:非综合征型、双侧对称性、高频下降为主的感音神经性听力损失,患者可表现为早年发病并快速进展的重度~极重度耳聋,或成年后发病并缓慢进展的轻度听力下降。

    Abstract:

    Objective:To explore the audiological characteristics of a hereditary auditory neuropathy(AN) pedigree. Methods: Twenty-three members of the AN family were selected for this study. Detailed history collection, physical examination and systematic audiological evaluations were conducted. The later included pure tone audiometry, acoustic immittance, auditory brainstem response (ABR), cochlear microphonics(CMs), and evoked otoacoustic emissions(EOAEs). Two hearing-impaired cases received 2 years-蒺 follow-up for their pure tone hearing. Results:Seven family members were diagnosed as AN according to the audiological data. In six of them, the hearing impairment started before the age of nine and progressed rapidly within 1 to 2 years. Pure tone audiometry showed bilateral symmetric, severe to profound hearing loss with high frequency sloping configuration in these patients. Other audiological tests revealed absence of acoustic reflexes and ABRs, and normal or near normal outer hear cell function as indicated in CMs and EOAEs. In one subject who didn't complain of hearing problem, however, the pure tone audiometry showed bilateral symmetric mild hearing loss with only high frequency involvement. The acoustic reflexes and ABR threshold in this patient were coincident with his hearing level; the CMs and EOAEs were within normal range. During two years-蒺 follow-up of hearing-impaired subjects, the hearing loss was progressive. Physical examination showed normal findings for all family members. Conclusion:Audiological phenotype of the AN pedigree is a form of nonsyndromic, bilateral symmetric, high frequency and sensorineural hearing impairment. The hearing loss of family members is either rapidly progressive, severe to profound with early-onset or slowly progressive, mild with later-onset.

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陈智斌,邢光前,曹新,田慧琴,李晓璐,魏钦俊,卜行宽.一遗传性听神经病家系的听力学表型特征[J].南京医科大学学报(自然科学版),2007,(4):322-325

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  • 收稿日期:2006-09-05
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