Cochlear deafness in a Chinese family with Fechtner's syndrome.

The American journal of otology Pub Date : 2000-05-01 DOI:10.1016/s0196-0709(00)80043-5

M W Pak, M H Ng, C B Leung, C A van Hasselt

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引用次数: 4

Abstract

Objective: To identify the nature of the hearing impairment in the members of a Chinese family with Fechtner's syndrome.

Study design: Retrospective case review.

Setting: Tertiary referral center.

Patients: A Chinese family with a variant of Alport's syndrome: high-tone sensorineural hearing loss, proteinuria, macrothrombocytopenia, and ocular disease.

Interventions: The diagnosis of Fechtner's syndrome was confirmed by the characteristic ultrastructure of the Döhle-like inclusion bodies in the neutrophils of the mother and her three children. Pure-tone audiometry, evoked response audiometry (ERA), and distortion product otoacoustic emissions (DPOAE) were performed in two subjects to investigate the hearing impairment.

Main outcome measure: The parameters of the ERA and DPOAEs were correlated.

Results: In both subjects, the ERA was within normal limits, and there were no measurable DPOAEs in frequencies >2 kHz.

Conclusion: The hearing loss in Fechtner's syndrome is cochlear rather than neural.

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一个中国费希特纳综合征家庭的耳蜗聋。

目的:了解一个中国费希特纳氏综合征家庭成员的听力损害性质。研究设计:回顾性病例回顾。单位:三级转诊中心。患者:Alport综合征变异的中国家庭:高音调感音神经性听力损失、蛋白尿、大量血小板减少症和眼部疾病。干预措施:通过母亲及其三个孩子中性粒细胞中Döhle-like包涵体的特征性超微结构证实了费希特纳综合征的诊断。采用纯音听力学、诱发反应听力学和失真积耳声发射(DPOAE)对两名受试者进行听力损伤的研究。主要观察指标:ERA与dpoae参数有相关性。结果:两组受试者的ERA均在正常范围内，在>2 kHz的频率范围内均未检测到dpoae。结论:费希特纳综合征的听力损失主要是耳蜗而非神经性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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The American journal of otology

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