关键词: 终末期肾病； 儿童； TRPC6基因； 全外显子基因测序

Abstract: Objective To explore the clinical characteristics and gene variation of end-stage renal disease (ESRD) in children. Methods Clinical data and whole exon gene sequencing results of one child with ESRD were analyzed retrospectively, and relevant literature was reviewed. Results? A 9 -year-old girl diagnosed with primary nephrotic syndrome, and the effect of treatment with glucocorticoid and immunosuppressive was poor. The renal function deteriorated rapidly, and the children were given alternative therapy after the course of 2 months. Heart failure and seizures occurred during regular hemodialysis. Whole exon gene sequencing revealed a missense variation of c. 395 T>C (p.Met 132 Thr) in TRPC 6 gene. Sanger sequencing verified that both parents were wild-type, and the variation was novel. Conclusion The variation of TRPC6 gene was the reason for the progression to ESRD with extrarenal manifestations. The pathogenicity of this variation site has been reported in foreign literature but not in China.

Key words: end-stage renal disease; child; TRPC6 gene; whole exon gene sequencing