皮肤基底膜α5（Ⅳ）链检测对Alport综合征诊断的意义  

Evaluation of alpha 5 （ Ⅳ ） collagen chain of skin basement membrane in diagnosis of Alport syndrome

作　　者：张骥[1] 马骏[1] 倪莉燕[1] 王朝晖[1] 潘晓霞[1] 任红[1] 张文[1] 沈平雁[1] 冻晓农[1] 陈楠[1] 

机构地区：[1]上海交通大学附属瑞金医院肾脏科,200025

出　　处：《中华肾脏病杂志》2009年第8期591-595,共5页Chinese Journal of Nephrology

基　　金：上海市重点学科（T0201）;上海市卫生局重点课题（2003ZD002）;上海市卫生局重点学科基金（05m001）

摘　　要：目的探讨皮肤基底膜α5（Ⅳ）链检测对疑似Alport综合征患者诊断的意义。方法回顾性分析2007年1月到2008年3月在我科行皮肤基底膜α5（Ⅳ）链检测的疑似Alport综合征患者的临床资料。结果共检测临床疑似患者254例（男性／女性，0．76），平均年龄为（25．85±17．03）岁（1～71岁），性别间的年龄差异无统计学意义。19例患者的皮肤基底膜α5（Ⅳ）链间接免疫荧光染色异常，阴性患者12例，阳性不连续患者7例，诊断为Alport综合征，诊断率为7．5％（19／254）。结论皮肤基底膜α5（Ⅳ）链检测能显著提高Alport综合征的诊断率，且可以为早期诊断和鉴别不同遗传类型提供帮助。Objective To evaluate the detection of alpha 5 （1V） collagen chain of skin basement membrane in diagnosis of Alport syndrome among suspected patients. Methods Data of suspected patients with the detection of alpha 5 （Ⅳ） collagen chain of skin basement membrane were retrospectively collected and analyzed from January 2007 to March 2008. Results A total of 254 suspected patients ranged from 1 to 71 years old with an average age of （25.85± 17.03） years old were enrolled （male/female ratio, 0.76）. There was no significant difference in average age between male and female. Abnormal alpha 5 （Ⅳ） collagen chain expression of skin basement membrane was found by indirect immunofluorescense in 19 patients among whom 12 cases were negative and 7 cases were discontinous deposit. These 19 patients were diagnosed as Alport syndrome and the diagnostic rate was 7.5%. Conclusions The diagnostic rate of Alport syndrome by detection of alpha 5 （Ⅳ） collagen chain in skin basement membrane is significant and helpful for early and differential diagnosis of Alport syndrome.

关 键 词：ALPORT综合征 胶原Ⅳ型 皮肤 基膜 间接免疫荧光 

分 类 号：R692.3[医药卫生—泌尿科学]