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目的探讨先天性肾病综合征患儿的基因突变情况及其临床特点。方法分析1例先天性肾病综合征患儿及其父母的临床资料并进行文献复习。取静脉血4ml,提取基因组DNA,行NPHS1、NPHS2基因检测。结果患儿血、尿巨细胞病毒(CMV)全项检测均阳性,规律足量抗病毒治疗未见改善,患儿有逐渐加重的重度低蛋白血症及重度水肿,在患儿基因检测中发现了NPHS1的G928A(D310)的杂合突变,发现2种碱基变异,E117K(rs3814995),IVS18,+5G>A,经比对第1种为单核苷酸多态性,第2种突变为位于内含子的变异(IVS18,+5G>A)尚未见报道。其父亲、母亲尿检正常,父亲基因检测没有第8外显子G928A(D310)突变,但存在两种碱基变异,E117K(rs3814995),(IVS18,+5G>A)。母亲基因检测结果有第8外显子G928A(D310)的杂合突变,及1种碱基变异,E117K(rs3814995)。结论先天性肾病综合征婴儿存在NPHS1基因突变,当患儿同时存在CMV感染并且抗病毒治疗未见改善时,需进一步行基因检测明确。
Objective To investigate the gene mutation in children with congenital nephrotic syndrome and its clinical features. Methods A case of congenital nephrotic syndrome in children and their parents clinical data and literature review. Take venous blood 4ml, genomic DNA extraction, line NPHS1, NPHS2 gene test. Results All children were positive for blood and urine cytomegalovirus (CMV), no improvement was found in the adequate antiviral therapy, severe hypoalbuminemia and severe edema were found in children, and the results of genetic testing in children The heterozygous mutation of G928A (D310) in NPHS1 revealed two kinds of nucleotide variation, E117K (rs3814995), IVS18, + 5G> A, and the first one was single nucleotide polymorphism Introns located in the mutation (IVS18, +5 G> A) has not been reported. His father and mother had normal urinalysis. There was no mutation of G928A (D310) in exon 8 of the father’s gene test, but there were two base variations, E117K (rs3814995), (IVS18, +5 G> A). There was a heterozygous mutation in exon 8 G928A (D310) and one base mutation in mother gene test, E117K (rs3814995). Conclusion There is NPHS1 gene mutation in infants with congenital nephrotic syndrome. When CMV infection is present in both children and the antiviral therapy has not been improved, further gene detection is needed.