Alport综合征单中心临床诊治状况分析  

Analysis of diagnosis and treatment of Alport syndrome

作　　者：安晓刚[1] 张琰琴[1] 丁洁[1] 王芳[1] 肖慧捷[1] 姚勇[1] 

机构地区：[1]北京大学第一医院儿科,100034

出　　处：《中华儿科杂志》2016年第9期669-673,共5页Chinese Journal of Pediatrics

基　　金：国家自然科学基金（81070545,81400685）,面上项目（81170657）,重点项目（30830105）;国家重点基础研究发展计划（973项目,2012CB517700）;“十二五”国家科技支撑计划（2012BAI03B02）;儿科遗传性疾病分子诊断与研究北京市重点实验室项目（Z141107004414036）

摘　　要：目的 分析和总结Alport综合征患者的临床特点及诊治状况.方法 选取北京大学第一医院儿科近20年（1995-2015）确诊为Alport综合征的398例患者,通过病历资料回顾性分析患者的首发症状、发现首发症状原因、发病年龄、家族史、遗传方式、诊断手段、误诊、误治等情况.结果 398例Alport综合征患者中,3岁前发病192例（48.2％）,17岁前发病381例（95.7％）.首发症状有肉眼血尿148例（37.2％）,镜下血尿、蛋白尿100例（25.1％）,单纯镜下血尿59例（14.8％）,眼睑、下肢水肿41例（10.3％）,尿泡沫增多17例（4.3％）等.157例（39.5％）患者无自觉泌尿系症状,因其他疾病、手术或体检等发现.初诊考虑Alport综合征的仅14.0％,而初诊为其他肾脏疾病的约86.0％,两组误用激素或免疫抑制剂治疗比例分别为19.0％和43.0％.皮肤基底膜Ⅳ型胶原α5链免疫荧光学染色、肾活检电镜检查及COL4A3、4、5基因突变检测对Alport综合征的检出率分别为77.8％、92.6％和96.6％.Alport综合征从发病到确诊所用时长为18.2个月,确诊Alport综合征所用时长随年份变化呈逐渐缩短.结论 Alport综合征发病年龄小,临床表现多样,以肉眼血尿、镜下血尿和蛋白尿为主,易误诊为其他肾脏疾病.建议对考虑Alport综合征的患者采用COL4A3/4/5基因突变检测进一步确诊.Objective To investigate the clinical characteristics and the status of diagnosis and treatment of patients with Alport syndrome in China.Method Patients with affirmative diagnosis of Alport syndrome from Department of Pedatrics,Peking University First Hospital in the past 20 years （1995-2015） were analyzed retrospectively.The clinical data including initial symptoms,visit reasons,age at onset of disease,family history,hereditary mode,methods of diagnosis,misdiagnosis and mistreatment were collected.Result A total of 398 patients with Alport syndrome were included in this study,48.2% of patients had the onset of symptoms before age of 3 years.The rate of onset of symptoms and diagnosis before age of 17 years were 95.7%.The initial symptoms included gross hematuria （37.2%）,microscopic hematuria and proteinuria （25.1%）,microscopic hematuria （14.8%）,edema of eyelid and lower limbs （10.3%）,increased foam in urine （4.3%）,etc.;39.5% of patients had no symptoms of urinary tract.Only 14.0% of the patients were diagnosed as Alport syndrome for the first time,and 86.0% of the patients were misdiagnosed.Hormones and immunosuppressive agents were used in 19.0% of patients diagnosed as Alport syndrome,and in 43.0% of patients there was misdiagnosis.Skin biopsy and immunofluorescence of type Ⅳ collagen a5 chain in epithelial basement membrane had a detection rate of 77.8%.Electron microscopy of glomerular basement membrane had a detection rate of 92.6%,and genetic testing 96.6%.The time interval of diagnosis was 18.2 months and was gradually shortened in recent years.Conclusion Alport syndrome developed at a very young age.Hematuria was the most frequent initial symptom.There was a high rate of misdiagnosis and mistreatment for Alport syndrome.Genetic testing for Alport syndrome had advantages of high detection rate,genetic consultation and prenatal diagnosis.

关 键 词：肾炎 遗传性 蛋白尿 肾功能衰竭 慢性 诊断 治疗 

分 类 号：R725.9[医药卫生—儿科]