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报告5例Alport综合征。结合其遗传方式及听力表现进行分析,5例中3例为常染色体显性遗传,2例为X染色体连锁隐性遗传。本病不只呈一种遗传方式,在不同家系中以不同方式遗传。听力表现:5例均为双侧感音神经性聋,听力损失约40~70dB。听力曲线表现多样,高频下降型2例,上升型1例,呈谷型2例。声导抗测试:镫骨肌声反射Metz试验阳性,感音性耳聋可能性较大。根据其听力表现及分析结果,提示听力检查应力求全面,有助于证明耳聋与肾病表现的关系。
Report 5 cases of Alport syndrome. According to their inheritance and hearing performance, 3 of 5 cases were autosomal dominant and 2 cases of X chromosome recessive inheritance. The disease is not only a genetic way, in different families in different ways genetic. Hearing performance: 5 cases were bilateral sensorineural hearing loss, hearing loss of about 40 ~ 70dB. Hearing curves varied, 2 cases of high-frequency descending type, 1 case of ascending type, 2 cases of valley type. Acoustic impedance test: the stapedius acoustic reflex Metz test positive, sensory deafness is more likely. According to their hearing performance and analysis results, suggesting that hearing tests should be comprehensive, help to prove the relationship between deafness and kidney disease performance.