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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 investigate the ocular manifestations of Alport syndrome in children. Design retrospective case series. Subjects Peking University First Hospital pediatric confirmed 3 to 16-year-old Alport syndrome in 19 patients. Methods Analysis of children with gender, age, duration, hearing tests, renal function tests and other data, as well as detailed eye examination results, including vision, slit lamp examination, mydriatic fundus examination, color fundus photography. The main indicators of age, duration, slit lamp examination, mydriasis fundus examination seen. Results 7/19 (36.8%) patients had ocular changes. There were 3 cases of speckle-like retinal changes, 4 cases of peripheral retinal pigment disorders and vascular sheaths, 2 cases of lens opacification and 1 case of cataract surgery. 2 patients with chronic renal insufficiency; 3 patients with sensorineural deafness. Conclusions Ocular abnormalities in children with Alport syndrome appear less and less and may be related to younger patients. Some of the children reported in this article found that peripheral retinal pigment disorders and whether or not the white blood sheath is its characteristic changes to be further observed.