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

ABSTRACT: 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.

SUBMITTER: Shi V 

PROVIDER: S-EPMC10258721 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature