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

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

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 CUB...

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Bibliographic Details
Main Authors: Vivian Shi, Quinn Stein, Dinah Clark, Sumit Punj, Robin Kremsdorf, Mohammed Faizan
Format: Article
Language:English
Published: Wiley 2023-06-01
Series:Clinical Case Reports
Subjects:
cubilin gene
genetic testing
kidney
monogenic
persistent proteinuria
Online Access:https://doi.org/10.1002/ccr3.7502

Internet

https://doi.org/10.1002/ccr3.7502

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