Article

CblC Deficiency is the Cause of Persistent Proteinuria in a Young Female Ten Years After the Diagnosis of Atypical Nephropathy: A Case Report

2023-06-15

Abstract excerpt

<h4>Background: </h4> Cobalamin C (cblC) deficiency is the most common inborn error of cobalamin metabolism. It is caused by pathogenic variants in the MMACHC gene with varying clinical features. However, proteinuria as the primary manifestation is exceedingly rare and renal biopsy demonstrating primary glomerular pathology also is infrequent. Here we report a pediatric patient with persistent proteinuria for ten...

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Literature Corpus work: c2bbf243-0b07-5e0b-bd61-e6ef9acb3dde
DOI: 10.21203/rs.3.rs-2994279/v1

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