关键词: 激素耐药性；　肾病综合征；　PLCE1 基因；　激素；　突变

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.

Key words: 　hormone resistance;　nephrotic syndrome;　PLCE1 gene;　hormone;　mutation