儿童Alport综合征的听力学特征多样性研究  

Audiological features in children with alport syndrome

作　　者：王蓬鹏[1] 王华[1] 张亚梅[1] 刘世琳[1] 郑军[2] 刘海红[1] 张莉[1] 张杰[1] 

机构地区：[1]首都医科大学附属北京儿童医院耳鼻咽喉头颈外科,儿童耳鼻咽喉头颈疾病北京市重点实验室,北京100034 [2]首都医科大学附属北京同仁医院耳鼻咽喉头颈外科,北京100730

出　　处：《中华耳科学杂志》2015年第3期445-449,共5页Chinese Journal of Otology

摘　　要：目的探讨儿童Alport综合征(Alport Syndrome AS)听力学特点多样性及预后。方法分析2007-2013年北京儿童医院确诊的43例AS患者的听力学特点,病理改变及临床特点并进行电话随访,并进行统计学分析。结果 43例诊断为AS儿童中男性36例,女性7例,年龄22个月-13岁,中位数年龄8岁,听力正常组33例,听力异常组10例。123.2%AS患儿合并感音神经性聋,并且全部为男性,中度聋最常见占70%;2听力曲线图包括谷型7例(70%)、陡降型2例(20%)、平坦型1例(10%);其中有30%听力曲线呈非对称分布;3比较耳听力正常组及耳听力异常组肾脏病理间差异性,存在耳部症状的患者,电镜足突病变较重,两组间差异有统计学意义;4电话回访发现正常听力组有近1/3的受访者诉听力有下降,而全部听力异常组的受访者听力进行性下降,1例重度听力损失患儿发展为终末期肾病结论耳部病变是AS的常见症状,其听力曲线多样,并有部分呈非对称分布,儿童期听力损失呈进行性下降趋势,听力异常是显著足细胞病变一个指标。Objective To assess audiological features in children with Alport Syndrome and hearing loss prognosis. Methods Audiologic, nephrologic and opthalmologic findings in 43 cases of Alport syndrome between 2007 and 2013 were reviewed. Their progress was followed up by telephone interview. Results Forty-three individuals（36 males, 7 females, aged from 22 months to 13 years） underwent audiologic tests, which showed normal hearing in 33 and hearing loss in 10. Of these children with AS, 23.2%（all male） had sensorineural hearing loss（70% at moderate hearing loss level）. Audiometric configuration was＂U＂-shaped in 7, sloping in 2 or flat in 1 patient, respectively. Sensorineural hearing loss was asymmetric in 30% of these patients.For AS children with abnormal hearing, there were more severe podocyte injury as compared with those with normal hearing. Telephone follow-up found that one-third of AS children with normal hearing gradually developed hearing loss, and hearing in those with abnormal hearing became progressively worse. One child with severe hearing loss developed end stage renal disease（ESRD）. Conclusion Hearing loss is a common symptom of AS, which may reflect the severity of podocyte lesions.Audiometric configuration distribution in AS may vary and can be asymmetric. Children with AS all showed continuing progressive hearing loss.

关 键 词：ALPORT综合征 听力损失 儿童 

分 类 号：R762.5[医药卫生—耳鼻咽喉科]