先天性肾病综合征12例临床分析

Congenital nephrotic syndrome——a study of twelve patients

目的分析先天性肾病综合征(CNS)的临床特点、治疗及预后。方法回顾性分析本院1995年1月至2015年11月收治的CNS患儿临床资料,对其临床特点、基因检测结果、抗巨细胞病毒(CMV)治疗效果及预后进行分析。结果共纳入CNS患儿12例,其中男8例,女4例。10例以水肿为主要临床表现,2例体检时发现蛋白尿。基因检测6例,1例阴性;5例为原发性CNS(NPHS1突变,芬兰型),激素治疗无效,其中死亡4例,1例已随访至生后13个月,尿蛋白+++。12例CNS患儿中CMV感染8例,1例未给予抗病毒治疗即死亡;7例行规律抗病毒治疗,其中2例长期随访尿蛋白转阴,考虑CMV继发性CNS,2例死亡,2例失访,1例抗病毒治疗后尿蛋白转阴,8个月时因感染复发尿蛋白+++,行肾穿病理检查见肾小球微小病变,肾穿刺切片巨细胞包涵体、CMV-DNA阴性,基因检测为NPHS1基因突变。结论原发性CNS患儿可能多数有NPHS1基因突变,预后差,可伴随CMV感染,抗病毒治疗不能改善CNS预后。CMV感染可为继发性CNS的病因,虽部分患儿抗病毒治疗有效,但仍需行基因检测除外基因突变。

Objective To study the clinical features,treatment and prognosis of congenital nephrotic syndrome（ CNS）. Methods Pediatric CNS patients admitted from January 1995 to November2015 to our Department were retrospectively studied. Clinical features,genetic testing results,efficacy of anti-Cytomegalovirus（ CMV） therapy and prognosis of these patients were analyzed. Results A total of12 patients,eight boys and four girls,were diagnosed. The main complaints of these patients were edema（ 10 patients） or proteinuria（ 2 patients）. Of the six patients who completed genetic test,one was of negative result,the other five were all diagnosed with primary CNS（ NPHS1 mutation,Fennish type）and all received steroid therapy. However,four patients died,one patient was followed up to 13-months old with persistent proteinuria（ 3 ＋）. Of the 12 patients included,eight had CMV infection,one of them died before anti-CMV therapy instituted. Of the rest seven patients who received anti-CMV therapy,only two were free from proteinuria during long-term follow-up who were thought to be secondary CNS caused by CMV infection,two died,two were lost to follow-up. One patient was also free from proteinuria,however,the infant relapsed for proteinuria（ 3 ＋） at 8 months-old because of infection. His renal biopsy showed glomerular minimal change by light microscope,his renal histological section didn ＇t show any CMV inclusion bodies nor CMV-DNA, this patient also had mutation of NPHS1 gene.Conclusions Primary CNS patients with NPHS1 mutation have poor prognosis. Primary CNS patients might be accompanied with CMV infection,however,anti-CMV therapy is ineffective to these patients.CMV infection can cause CNS,the diagnosis of secondary CNS need the gene examination to exclude CNS with gene mutations although antiviral is effective to some children.