Alport综合征的临床表现

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。

Clinical features of Alport syndrome

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 retros-pectively.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.