Isolated Proteinuria Caused by <i>CUBN</i> Gene Mutations: A Case Report and Review of the Literature

作者全名："Ran, Jingyang; Chen, Qingsong; Hu, Yudong; Yang, Pengfei; Yu, Guiquan; Liao, Xiaohui; Lei, Jianrong"

作者地址："[Ran, Jingyang; Chen, Qingsong; Hu, Yudong; Yang, Pengfei; Yu, Guiquan; Liao, Xiaohui; Lei, Jianrong] Chongqing Med Univ, Nephrol Dept, Affiliated Hosp 2, Chongqing, Peoples R China"

通信作者："Lei, JR (通讯作者)，Chongqing Med Univ, Nephrol Dept, Affiliated Hosp 2, Chongqing, Peoples R China."

来源：CASE REPORTS IN NEPHROLOGY AND DIALYSIS

ESI学科分类：　

WOS号：WOS:001127613200017

JCR分区：Q4

影响因子：0.7

年份：2023

卷号：13

期号：1

开始页：27

结束页：35

文献类型：Review

关键词：CUBN gene; Gene mutation; Isolated proteinuria

摘要："Mutations in the cubilin (CUBN) gene commonly cause Imerslund-Grasbeck 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."

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