PLCE1基因突变致激素耐药型肾病综合征1例报告并文献复习  

Steroid-resistant nephrotic syndrome caused by PLCE1 gene mutation:a case report and literature review

作　　者：李旺辉[1] 苏达永 强瑞雪[1] 郝志宏[2] 于力[2] LI Wanghui;SU Dayong;QIANG Ruixue;HAO Zhihong;YU Li(Pediatrics of Guangzhou Development District Hospital,Guangzhou 510730,Guangdong,China;Pediatrics of Guangzhou First People's Hospital,Guangzhou 510180,Guangdong,China)

机构地区：[1]广州开发区医院儿科,广东广州510730 [2]广州市第一人民医院儿科,广东广州510180

出　　处：《临床儿科杂志》2020年第6期422-425,共4页Journal of Clinical Pediatrics

基　　金：广东省医学科学技术研究基金项目(No.A2017087)。

摘　　要：目的分析PLCE1基因突变致激素耐药型肾病综合征(SRNS)的临床特征和基因变异特点。方法回顾分析1例确诊的由PLCE1基因突变致SRNS患儿的临床资料,并复习相关文献。结果女性患儿,8岁11月龄,确诊原发性肾病综合征6年余,激素耐药型,病理为局灶节段性肾小球硬化(FSGS)。肾病综合征相关基因检测发现,患儿PLCE1基因存在2个杂合错义变异c.577G>A(p.V 193 I)和c.2770G>A(p.G 924S);Sanger测序验证显示c.577G>A(p.V 193 I)来自患儿母亲(杂合状态),患儿父母均无c.2770G>A(p.G924S)变异,为新发变异。这2个变异均为已有报道的致病性突变。结论PLCE1基因变异可导致常染色体遗传型SRNS。Objective To explore the clinical characteristics and gene variation of steroid-resistant nephrotic syndrome(SRNS)caused by PLCE1 gene mutation.Method The clinical data of SRNS caused by PLCE1 gene mutation in a child diagnosed in April 2018 were analyzed and the relevant literature was reviewed.Results The female child was 8 years and 11 months old.She had been diagnosed with primary nephrotic syndrome for more than 6 years.It was hormone-resistant,and the pathological diagnosis was focal segmental glomerulosclerosis(FSGS).Two heterozygous missense mutations of c.577G>A(p.V193I)and c.2770G>A(p.G924S)were found in PLCE1 gene in the child with nephrotic syndrome.Sanger sequencing verification showed that c.577G>A(p.V193I)came from the mother of the child(heterozygous state).The parents of the child had no variation of c.2770g>A(p.g924s),which was a new variation.These two mutations are all pathogenic mutations that have been reported.Conclusion Mutations in the PLCE1 gene can cause autosomal genetic SRNS.

关 键 词：激素耐药性 肾病综合征 PLCE1基因 激素 突变 

分 类 号：R726.9[医药卫生—儿科]