儿童Alport综合征眼部表现  

Ocular manifestation of Alport syndrome in children

作　　者：赵亮[1] 丁洁[2] 聂红平[1] 王芳[2] 张宏文[2] 杨柳[1] 

机构地区：[1]北京大学第一医院眼科视觉损伤与修复教育部重点实验室,100034 [2]北京大学第一医院儿科

出　　处：《眼科》2011年第4期271-274,共4页Ophthalmology in China

摘　　要：目的探讨儿童Alport综合征的眼部表现。设计回顾性病例系列。研究对象北京大学第一医院儿科确诊的3～16岁Alport综合征患者19例。方法分析患儿的性别、年龄、病程、听力检查、肾功能检查等资料，以及详细的眼部检查结果包括视力、裂隙灯检查、散瞳眼底检查、彩色眼底照相等。主要指标年龄、病程、裂隙灯检查、散瞳眼底检查所见。结果7／19例（36．8％）患者具有眼部改变，其中斑点样视网膜改变3例，周边视网膜色素紊乱及血管白鞘4例，晶状体混浊2例，因白内障已行手术治疗1例。2例患者慢性肾功能不全；3例患者感音神经性耳聋。结论儿童Alport综合征患者眼部异常出现较少且较轻，可能与患者年龄较小有关。本文报告的部分患儿发现周边视网膜色素紊乱及血管白鞘是否为其特征性改变有待进一步观察。Objective To study the ocular manifestations of young Alport syndrome patients. Design Retrospective case series. Participants 19 patients aged from 3 to 16 years old, diagnosed with Alport syndrome in the Department of Pediatrics, Peking University First Hospital. Methods The results of ocular examinations as well as puretone audiometry and renal function examinations were obtained and analyzed retrospectively. Main Outcome Measures Age, course of disease, slit lamp examination, and mydriatic fundus examination. Results 7 patients （36.8%） had ocular abnormalities： 3 with dot-and-fleck retinopathy, 2 with lens opacities, 1 with aphakia （after lens extraction operation）, 4 with pigment disorders and sheathing of blood vessel in the peripheral retina. 2 patients had renal failure, and 3 patients had sensorineural deafness. Conclusions Ocular abnormalities are relatively uncommon and subtle in young patients with Alport syndrome. Pigment disorder and sheathing of blood vessels in the peripheral retina is considered as an additional ocular manifestation in these patients.

关 键 词：ALPORT综合征 系统性疾病眼部表现 视网膜血管白鞘 儿童 

分 类 号：R726.9[医药卫生—儿科]