Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants

Key Clinical MessageWe present two siblings with persistent proteinuria and normal kidney function, each carrying the same compound heterozygous variants in the CUBN gene. The CUBN-related phenotype appears to be dependent upon both variant type and the domain site within the gene. Knowledge of CUBN status may allow for avoidance of invasive testing.

Automated summary

We report two siblings with persistent proteinuria and normal kidney function, both harboring the same compound heterozygous variants in the CUBN gene. The CUBN-related phenotype appears to be influenced by both the type of variant and the specific domain site within the gene. Knowledge of CUBN status may help in avoiding invasive testing.