Alport综合征的临床表现

Clinical features of Alport syndrome

目的:分析Alport综合征患者的临床表现和眼部病变的特征。方法:对近21a来我院确诊的31例Alport综合征患者的资料进行回顾性分析,记录其一般情况、家族史、眼部、肾功能及耳科检查结果等。结果:患者中男21例(68%),女10例(32%)。确诊年龄19.8±9.7岁。患者中有17例满足3项以上诊断标准(55%),另外14例均进行了肾穿刺活检电镜检查支持诊断。12例有眼部异常(39%),4例同时有前锥形晶状体和黄斑周围视网膜斑点2项;1例仅有晶状体异常;7例仅有视网膜斑点。28例进行肾穿(90%),电镜检查符合诊断。20例有家族史(64%)。21例有听力障碍(68%)。结论:Alport综合征患者中眼部异常的表现有独特性;了解眼部病变特征并结合全身病史有助于疾病的诊断和随诊。

AIM： To assess Alport syndrome＇s clinical manifesta- tions, especially the ocular features. METHODS： Thirty-one patients who were diagnosed as Alport syndrome in past 21 years were analyzed retrospectively. They received ophthalmologic, audiologic and nephrologic assessments. The following data were recorded： age of diagnosis, sex, family history, ocular examinations, renal function, and hearing examination. RESULTS： Twenty-one patients were male （68%） and 10 patients were female（32% ） with diagnosis age 19.8 ± 9.7 years. Twelve patients（39%） had the typical ocular changes of Alport syndrome in both eyes. Four patients had both anterior lenticonus and retinal flecks; one only had lens abnormality; and seven only had retinal flecks. All the patients had hematuria or progressive nephritis at admission. Twenty-eight patients （90%） had renal biopsy that showed the typical splitting of glomerular basement membrane for the diagnosis. Twenty patients （64%） had positive family history. Twenty-one patients （68%） had sensorineural deafness. CONCLUSION： Ocular abnormalities are not rare in adult patients of Alport syndrome. Knowing about ocular features and systenic disease history will help doctors to make the correct diagnosis and follow up.