泌尿系统疾病专栏

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

  • LI Wanghui ,
  • SU Dayong ,
  • QIANG Ruixue ,
  • et al
展开
  • 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)

网络出版日期: 2020-06-12

基金资助

广东省医学科学技术研究基金项目(No.A2017087)

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

  • 李旺辉,苏达永,强瑞雪,等
Expand
  • 1.Pediatrics of Guangzhou Development District Hospital, Guangzhou 510730, Guangdong, China; 2.Pediatrics of Guangzhou First People's Hospital, Guangzhou 510180, Guangdong, China

Online published: 2020-06-12

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.V193I)和c.2770G>A(p.G924S);Sanger 测序验证显示c.577G>A(p.V193I)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。

本文引用格式

LI Wanghui , SU Dayong , QIANG Ruixue , et al . 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[J]. 临床儿科杂志, 2020 , 38(6) : 422 . DOI: 10.3969/j.issn.1000-3606.2020.06.006

Abstract

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.
文章导航

/