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。

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.