儿童Alport综合征临床与病理分析

朱春华; 黄松明; 吴红梅; 鲍华英; 陈颖; 韩媛; 赵非; 张爱华; 张维真

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中国当代儿科杂志 ›› 2010, Vol. 12 ›› Issue (3) : 188-191.

论著·临床研究

儿童Alport综合征临床与病理分析

朱春华，黄松明，吴红梅，鲍华英，陈颖，韩媛，赵非，张爱华，张维真

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Clinical and pathological features of Alport syndrome in children

ZHU Chun-Hua, HUANG Song-Ming, WU Hong-Mei, BAO Hua-Ying, CHEN Ying, HAN Yuan, ZHAO Fei, ZHANG Ai-Hua, ZHANG Wei-Zhen

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摘要

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］

Abstract

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 recessive inheritance Alport syndrome in 2 cases. Recurrent gross hematuria was found in 5 cases, hematuria and proteinuria in 3 cases, massive proteinuria in 1 case, and nephritic syndrome in 1 case. Under the light microscope, 8 cases presented with mesangial proliferation glomerulonephritis, and 2 cases with focal segmental glomerulosclerosis. Immunofluorescence assay showed that all cases had IgM deposition in glomerulus. Only 1 case showed typical glomerular basement membrane (GBM) pathological changes. All cases showed abnormal α-chain distribution in renal collagen IV. CONCLUSIONS: The children with Alport syndrome have diverse clinical manifestations. Characteristic histopathological presentations could not be found under a light microscope, mesangial proliferation glomerulonephritis is the dominant pathological change, and IgM deposition in glomerulus is common. The GBM pathological change in children is not common. Immunofluorescence assay of α-chain in collagen IV is needed for the diagnosis of Alport syndrome.［Chin J Contemp Pediatr, 2010, 12 (3):188-191］

导出引用

朱春华, 黄松明, 吴红梅, 鲍华英, 陈颖, 韩媛, 赵非, 张爱华, 张维真. 儿童Alport综合征临床与病理分析[J]. 中国当代儿科杂志. 2010, 12(3): 188-191

ZHU Chun-Hua, HUANG Song-Ming, WU Hong-Mei, BAO Hua-Ying, CHEN Ying, HAN Yuan, ZHAO Fei, ZHANG Ai-Hua, ZHANG Wei-Zhen. Clinical and pathological features of Alport syndrome in children[J]. Chinese Journal of Contemporary Pediatrics. 2010, 12(3): 188-191

中图分类号： R692

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