In order to investigate the underlying genetic defects for congenital nephrotic syndrome and renal failure in this case, we performed next generation sequencing of a panel of 21 genes (ACTN4, ALG1, APOL1, CD2AP, COQ2, INF2, LAMB2, LMX1B, MYO1E, NPHS1, NPHS2, PDSS2, PLCE1, PMM2, PTPRO, SCARB2, SMARCAL1, TRPC6, WT1, ZMPSTE24, and NPHP1) underlying the most common genetic nephrotic syndrome or renal failure when the girl was first admitted to our hospital. Here, PMM2 is linked to acute kidney injury.