CAJ | 학술논문

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。
목적：탐토인동Alport종합정(Alport Syndrome AS)은역학특점다양성급예후。방법분석2007-2013년북경인동의원학진적43례AS환자적은역학특점，병리개변급림상특점병진행전화수방，병진행통계학분석。결과43례진단위AS인동중남성36례，녀성7례，년령22개월-13세，중위수년령8세，은력정상조33례，은력이상조10례。①23.2%AS환인합병감음신경성롱,병차전부위남성，중도롱최상견점70%；②은력곡선도포괄곡형7례（70%）、두강형2례（20%）、평탄형1례（10%）；기중유30%은력곡선정비대칭분포；③비교이은력정상조급이은력이상조신장병리간차이성，존재이부증상적환자，전경족돌병변교중，량조간차이유통계학의의；④전화회방발현정상은력조유근1/3적수방자소은력유하강，이전부은력이상조적수방자은력진행성하강，1례중도은력손실환인발전위종말기신병결론이부병변시AS적상견증상，기은력곡선다양，병유부분정비대칭분포，인동기은력손실정진행성하강추세，은력이상시현저족세포병변일개지표。
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 be-tween 2007 and 2013 were reviewed. Their progress was followed up by telephone interview. Results For-ty-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 sensori-neural hearing loss (70%at moderate hearing loss level). Audiometric configuration was“U”-shaped in 7, slop-ing 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 devel-oped hearing loss, and hearing in those with abnormal hearing became progressively worse. One child with se-vere 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.