目的:总结Alport综合征的临床表现,尤其是眼部特征。方法:回顾性分析32例被确诊为Alport综合征患者的内科、耳鼻喉科和眼科检查结果。结果:患者30例(93.7%)有疾病家族史。所有患者均有不同程度的肾脏病变:18例(56.3%)有肾功能衰竭,4例(12.5%)肾功能不全,10例(31.3%)血尿。患者20例(62.5%)有感音神经性耳聋。患者13例(40.6%)有眼部异常表现,其中5例(15.6%)为典型性改变:前圆锥晶体3例,黄斑周围斑点2例。结论:眼部异常不是Alport综合征诊断的必需条件,但因其典型的眼科表现应当引起眼科医师的注意,以便早期诊断治疗。

·AIM:To analyze the clinical manifestation of Alport syndrome,especially the ocular features.·METHODS:The physical,ophthalmologic and audiologic examination results of thirty two patients with Alport syndrome were analyzed retrospectively.·RESULTS:Thirty(93.7%)patients had some family history.All patients had renal disease:eighteen(56.3%)patients with chronic renal failure,four(12.5%)patients with renal insufficiency,and the other ten(31.3%)patients with hematuria.Twenty(62.5%)patients had sensorineural deafness.Thirteen(40.6%)patients had ocular deformity,five(15.6%)patients had typical ocular changes:three patients with anterior lenticonus,and two patients with macular flecks.·CONCLUSION:Ocular anomalies are not requisite for the diagnosis of Alport syndrome.But its typical ocular features should be recognized by the ophthalmologists which supports the diagnosis.·

中国上海市重点学科建设资助项目（No.S30205）