儿童Alport综合征临床与病理分析

目的：了解Alport综合征患儿的临床与病理特点。方法：回顾性分析我院2007年2月至2009年2月10例诊断为Alport综合征患儿的临床及病理资料。结果：男7例，女3例，年龄2岁至6岁7月，平均3岁2月。10例患儿中5例有明确家族史；X连锁显性遗传8例，常染色体隐性遗传2例。临床表现为孤立性血尿5例，血尿合并蛋白尿3例，大量蛋白尿1例，肾病综合征1例；肾组织病理示：8例光镜为系膜增生性肾小球肾炎，2例为局灶节段性肾小球硬化；免疫荧光均以IgM沉积为主；电镜下1例出现典型的肾小球基底膜病变。所有患儿肾脏IV型胶原α链分布异常。结论：Alport综合征临床表现多样。肾组织病理光镜下主要以系膜增生为主，免疫荧光以IgM沉积为主。电镜下基底膜病变不明显，需结合IV型胶原α链免疫荧光检测明确诊断。［中国当代儿科杂志，2010，12（3）：188-191］

Clinical and pathological features of Alport syndrome in children

Objective To study the clinical and pathological features of Alport syndrome in children.Methods The clinical and histopathological data of 10 hospitalized children with Alport syndrome from February 2007 to February 2009 were retrospectively reviewed.Results There were 7 males and 3 females, with the age ranging from 2 years to 6 years and 7 months (mean 3 years and 2 months). Five of 10 cases had positive family history. X-linked dominant inheritance Alport syndrome was diagnosed in 8 cases, and autosomal...