91例儿童Alport综合征临床、病理特点及误诊分析

发布时间：2018-02-20 15:32

  本文关键词： Alport综合征 误诊 Ⅳ型胶原 基因检测 儿童　出处：《中国当代儿科杂志》2017年04期 　论文类型：期刊论文

【摘要】：目的探讨儿童Alport综合征(AS)临床、病理特点和诊治情况,以提高对AS的认识。方法收集确诊的91例AS患儿临床资料进行回顾性分析。结果 91例患儿均有血尿,86例伴有蛋白尿。61例X连锁显性遗传AS(XL-AS)患儿有阳性家族史。肾活检的82例患儿中74例有轻度或轻-中度系膜增生,48例系膜区少量免疫复合物,53例肾小球基底膜(GBM)有变薄、增厚和撕裂。63例进行了肾组织Ⅳ型胶原α3、α5链免疫荧光检测,确诊AS 58例,其中53例符合XL-AS,5例符合常染色体隐性遗传AS。91例AS患儿中,58例通过肾组织Ⅳ型胶原α3、α5链免疫荧光确诊,21例通过电镜确诊,1例通过皮肤活检确诊;12例基因诊断确诊。发现6个COL4A5基因新突变。45例曾被误诊其他疾病,其中41例接受过激素和/或免疫抑制剂治疗。结论儿童AS临床表现缺乏特异性,特征性GBM电镜改变仅见于部分患儿,本区域儿童AS误诊误治率仍较高。COL4A5基因新突变比例较高。
[Abstract]:Objective to investigate the clinical, pathological features, diagnosis and treatment of Alport syndrome in children. Methods the clinical data of 91 children with as were collected and analyzed retrospectively. Results there were 86 cases of hematuria with proteinuria and 61 cases of X-linked dominant genetic ASL ASL ASL with positive family history. Of 82 cases of renal biopsy, 74 cases had mild or mild to moderate Mesangial hyperplasia. 48 cases had a small amount of immune complex in Mesangial area and 53 cases had glomerular basement membrane (GBM) thinning. Renal tissue type 鈪，

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