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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 analyze the clinical features, treatment and prognosis of congenital nephrotic syndrome (CNS). Methods The clinical data of children with CNS admitted from January 1995 to November 2015 in our hospital were retrospectively analyzed. The clinical features, gene test results, anti-cytomegalovirus (CMV) treatment outcome and prognosis were analyzed. Results A total of 12 children with CNS were enrolled, including 8 males and 4 females. Edema was the main clinical manifestation in 10 cases and proteinuria in 2 cases. 6 cases were detected by gene assay, 1 case was negative; 5 cases were primary CNS (NPHS1 mutation, Finnish type) .Hormone treatment was ineffective, 4 cases died and 1 case was followed up to 13 months after birth. Urinary protein +++. CMV infection in 12 children with CNS in 8 cases, 1 without antiviral therapy that died; 7 regular antiviral therapy, including 2 cases of long-term follow-up urinary protein negative, considering CMV secondary CNS, 2 deaths, 2 cases were lost to follow-up, 1 case had negative urine protein after antiviral treatment. Urine protein +++ was found in 8 months after infection. Renal pathological examination showed glomerular lesion, renal cell fragment inclusion, CMV -DNA negative, gene test for NPHS1 gene mutation. Conclusion Most children with primary CNS may have NPHS1 gene mutation with poor prognosis, which may be accompanied by CMV infection. Antiviral therapy can not improve the prognosis of CNS. CMV infection may be the etiology of secondary CNS, although some of the anti-viral treatment of children effective, but still need genetic testing except genetic mutations.