Isolated Proteinuria Caused by CUBN Gene Mutations: A Case Report and Review of the Literature.

ABSTRACT: Mutations in the cubilin (CUBN) gene commonly cause Imerslund-Gräsbeck syndrome, while isolated proteinuria as a result of CUBN variations is rarely reported. The clinical manifestation is mainly chronic isolated proteinuria in the non-nephrotic range. However, findings to date suggest that isolated proteinuria associated with abnormalities in the CUBN gene is benign and does not affect long-term prognosis of kidney function. We identified 2 patients with isolated proteinuria triggered by compound heterozygous CUBN mutations. Renal functions of both patients remained normal over a 10-year follow-up period, supporting the benign nature of proteinuria caused by CUBN gene variations. Two novel mutation sites were detected, expanding the genotypic spectrum of

SUBMITTER: Ran J 

PROVIDER: S-EPMC10293958 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature