Alport综合征临床分析  

Clinical analysis of Alport syndrome

作　　者：徐建敏[1] 张琼[1] 周颖明[1] 张士胜[1] 朱彩红[1] 

机构地区：[1]第二医科大学附属瑞金医院眼科,上海200025

出　　处：《中国实用眼科杂志》2005年第5期542-544,共3页Chinese Journal of Practical Ophthalmology

摘　　要：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。结果所有患者均有不同程度的肾脏病变:18例有肾衰,4例肾功能不全,10例血尿。20例患者有感音神经性耳聋。13例患者有眼部异常表现,其中5例为典型性改变: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。Objective To assess 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 All patients had renal disease:eighteen patients with chronic renal failure,four patients with renal insufficiance,and the other ten patients with hematuria.Twenty patients had sensorineural deafness.Thirteen patients had ocular deformity.Five patients had the typical change,three patients with anterior lenticonus,and two patients with macular flecks.Conclusions Ocular abnormalities are not requisite for the diagnosis of Alport syndrome.But for its typical ocular features,Alport syndrome should be recognized by the ophthalmologists and help to be diagnosed correctly.

关 键 词：ALPORT综合征 临床表现 眼部疾病 遗传性肾炎 基因突变 肾功能 

分 类 号：R771.3[医药卫生—眼科] R692.3[医药卫生—临床医学]