학술논문
Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants.
Document Type
Case Study
Source
Subject
*PROTEINURIA
*GENETIC variation
*KIDNEY physiology
*GENETIC testing
*PHENOTYPES
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Language
ISSN
2050-0904
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. [ABSTRACT FROM AUTHOR]