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

Abstract

Key Clinical Message We 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.

Keywords

• cubilin gene
• genetic testing
• kidney
• monogenic
• persistent proteinuria