Alport综合征的临床及听力学表现  

Clinical and Audiological Features Hearing Loss in Patients With Alport Syndrome

作　　者：王轶[1] 曹克利[1] 王直中[1] 罗岩[2] 

机构地区：[1]中国医学科学院中国协和医科大学北京协和医院耳鼻咽喉科,北京100730 [2]中国医学科学院中国协和医科大学北京协和医院眼科

出　　处：《听力学及言语疾病杂志》2003年第2期110-111,共2页Journal of Audiology and Speech Pathology

摘　　要：目的　分析Alport综合征的临床及听力学特点。方法　回顾性分析经我院确诊为Alport综合征的 9例患者临床资料 ,包括耳科、肾脏和眼科情况。结果　听力学表现全部为双耳对称性感音神经性聋 ,高频下降型6 7% ( 6 / 9) ,谷型 2 2 % ( 2 / 9) ,平坦型 11% ( 1/ 9) ;肾脏主要表现为血尿、蛋白尿、慢性肾功能不全 ;眼科病变主要为前锥形晶体 ,黄斑周围视网膜斑点。 5例患者肾活检电镜表现典型。 5例患者家族史阳性。结论　Alport综合征的听力学表现为双耳感音神经性聋 ,因此遇到双耳感音神经性聋患者应注意肾脏情况、眼科情况和家族史 。Objective To assess the clinical features especially the hearing loss in patients with Alport syndrome.Methods Audiologic,nephrologic and opthalmologic findings of nine cases of Alport syndrome were reviewed. Results All patients had hematuria,proteinuria,chronic renal failure and bilateral sensorineural deafness,high frequency hearing loss 67%(6/9), valley hearing loss 22%(2/9), flatting hearing loss 11%(1/9). Ocular abnormalities included anterior lenticonus and retinal flecks.Renal biopsy of 5 patients showed typical splitting of glomerular basement membrane in the eletronmicroscopic examination.5 patients had a positive family history.Conclusion Bilateral sensorineural hearing loss is the main audiological finding in patients with Alport syndrome. Patients with Bilateral sensorineural hearing loss must be asked about nephrologic and opthalmologic conditions and family history .Otologists must recognize the clinical features in order to make correct diagnosis.

关 键 词：听力学 ALPORT综合征 血尿 感音神经性聋 

分 类 号：R764.5[医药卫生—耳鼻咽喉科] R764.43[医药卫生—临床医学]