Alport综合征6例临床分析

Cinical analysis of Alport syndrome

目的总结Alport综合征的临床特征,尤其是[部表现。方法对6例Alport综合征患者的[部、电听力及肾功能检查结果进行回顾性分析。结果有[部改变者4例,高频感音性神经性耳聋者2例,肾功能衰竭者3例,肾组织活检示Alport综合征改变者2例,阳性家族史5例。结论对于有前锥形晶体和/或视网膜黄斑周围微粒改变者应行肾活检以确诊Alport综合症。

Objective To assess the clinical manifestation of Alport syndrome ,especially the ocular features. Methods The ophthalmologic, audiologic and renal function examination results of six patients with Alport syndrome were analyzed retrospectively. Results four patients had ocular changes ,two patients had sensorineural deafness, three patients with renal failure, two patients did renal biopsy and had Alport syndrome changes, five patients had family history. Conclusions We should do renal biopsy to the patient with anterior lenticonus and/or granulations surrounding the foveal area in order to final diagnose Alport syndrome.