Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants.
Clinical case reports(2023)
Abstract
We present two siblings with persistent proteinuria and normal kidney function, each carrying the same compound heterozygous variants in the gene. The -related phenotype appears to be dependent upon both variant type and the domain site within the gene. Knowledge of status may allow for avoidance of invasive testing.
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Key words
cubilin gene, genetic testing, kidney, monogenic, persistent proteinuria
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