Alport综合征眼部临床表现分析(英文)  

Ocular manifestations of Alport syndrome

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

机构地区：[1]上海交通大学医学院附属瑞金医院眼科上海瑞视眼科,中国上海市200025

出　　处：《国际眼科杂志》2010年第5期835-837,共3页International Eye Science

基　　金：Shanghai Leading Academic Discipline Project,China(No.S30205)~~

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: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.

关 键 词：ALPORT综合征 前圆锥晶状体 黄斑斑点 

分 类 号：R692.3[医药卫生—泌尿科学] R764[医药卫生—外科学]