以激素耐药型肾病综合征起病的Alport综合征15例临床分析  

Alport syndrome with the onset of steroid-resistant nephrotic syndrome:A clinical analysis of 15 cases

作　　者：谭俊杰 张瑶[1] 于生友[1] 郝志宏[1] 于力[1] 黄逸辉 TAN Jun-jie;ZHANG Yao;YU Sheng-you(Department of Pediatrics,Guangzhou First People’s Hospital,Guangzhou Medical University,Guangzhou 510180,China;不详)

机构地区：[1]广州医科大学附属广州市第一人民医院儿科,广东广州510180 [2]广州市红十字会医院儿科,广东广州510220

出　　处：《中国实用儿科杂志》2021年第2期125-129,共5页Chinese Journal of Practical Pediatrics

基　　金：国家自然科学基金项目(81670652,81273205);广东省科技计划项目(2016A020215010)。

摘　　要：目的对以儿童激素耐药型肾病综合征(steroid-resistant nephrotic syndrome,SRNS)起病的Alport综合征(Alport syndrome,AS)的临床资料、病理和基因检测情况进行临床分析,以提高对AS的认识。方法选取2015年1月至2019年12月广州医科大学附属广州市第一人民医院儿科初治均诊断为原发性肾病综合征(primary nephrotic syndrome,PNS),经过治疗效果不佳,从最初的激素依赖型肾病综合征(steroid-dependent nephrotic syndrome,SDNS)到SRNS,最后经过基因检测确诊为AS的15例患儿,综合分析其临床特点、病理、肾外表现及基因检测等情况。结果 (1)15例AS患儿中,均有镜下血尿,均有不同程度的水肿、大量蛋白尿、低蛋白血症和高脂血症,其中蛋白尿伴肉眼血尿的3例,出现尿素氮/血肌酐明显升高2例。(2)13例患儿行肾穿刺活检病理检测,AS患儿肾脏病理检查结果呈多样性,中度系膜增生性肾小球肾炎3例,局灶性节段性肾小球硬化(focal segmental glomerulosclerosis,FSGS)3例,IgA肾病3例,薄基底膜肾病2例,肾小球轻微病变1例,轻度系膜增生性肾小球肾炎1例。(3)15例PNS患儿均进行基因检测,发现COL4A5基因突变13例,COL4A4和COL4A3基因突变各1例。结论临床对于SRNS治疗效果不佳,应积极询问家族史,尽早行AS基因检测,早期诊断有助于判断患儿的预后,避免不必要的药物治疗,达到精准治疗。Objective To analyze clinical data,pathology and genetic testing of Alport syndrome with the onset of steroidresistant nephrotic syndrome to raise awareness of AS.Methods From January 2015 to December 2019,15 cases were chosen,who were initially diagnosed with primary nephrotic syndrome in the Department of Pediatrics,Guangzhou First People’s Hospital,affiliated Guangzhou Medical University;after ineffective treatment,it changed from initial SDNS to SRNS,and finally was confirmed to be AS by genetic testing based on analysis of clinical features,pathology,extrarenal manifestations and genetic testing.Results (1)In 15 children with AS,all had microscopic hematuria with varying degrees of edema,massive proteinuria,hypoproteinemia and hyperlipidemia. There were 3 cases of proteinuria with visual hematuria and 2 cases of significant elevation of urea nitrogen/blood creatinine.(2)Thirteen cases underwent renal biopsy pathology,and the results of renal pathology in children with AS were diverse:3 cases of moderate mesenteric hyperplastic glomerulonephritis,3 cases of focal segmental glomerulosclerosis(FSGS),3 cases of IgA nephropathy,2 cases of thin basement membrane nephropathy,1 case of mild glomerulopathy,and 1 case of mild mesenteric hyperplastic glomerulonephritis.(3)The 15 children with PNS were genetically tested and 13 cases of COL4 A5 mutation and one case of COL4A4 and COL4A3 mutation each was found.Conclusion If the clinical treatment for SRNS is not effective,family history should be asked actively and AS genetic testing should be performed as soon as possible. Early diagnosis can help determine the prognosis of the children in order to avoid unnecessary medication and achieve precise treatment.

关 键 词：肾病综合征 ALPORT综合征 基因检测 儿童 

分 类 号：R72[医药卫生—儿科]