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 CUBN variations. In addition, etiology, pathogenesis, clinical manifestations, auxiliary examination, and treatment of the condition were reviewed, with the aim of providing further guidance for clinical management.

• Authors: Jingyang Ran, Qingsong Chen, Yudong Hu, Pengfei Yang, Guiquan Yu, Xiaohui Liao, Jianrong Lei
• Journal: Case reports in nephrology and dialysis (Case Rep Nephrol Dial) 2023 Jan-Dec Vol. 13 Issue 1 Pg. 27-35 ISSN: 2296-9705 [Print] Switzerland
• PMID: 37384121 (Publication Type: Case Reports)
• Copyright: © 2023 The Author(s). Published by S. Karger AG, Basel.