Ran Jingyang, Chen Qingsong, Hu Yudong, Yang Pengfei, Yu Guiquan, Liao Xiaohui, Lei Jianrong
Nephrology Department, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Case Rep Nephrol Dial. 2023 May 26;13(1):27-35. doi: 10.1159/000530466. eCollection 2023 Jan-Dec.
Mutations in the cubilin () gene commonly cause Imerslund-Gräsbeck syndrome, while isolated proteinuria as a result of 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 gene is benign and does not affect long-term prognosis of kidney function. We identified 2 patients with isolated proteinuria triggered by compound heterozygous mutations. Renal functions of both patients remained normal over a 10-year follow-up period, supporting the benign nature of proteinuria caused by gene variations. Two novel mutation sites were detected, expanding the genotypic spectrum of 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.
cubilin（）基因突变通常会导致Imerslund-Gräsbeck综合征，而由该基因变异导致的孤立性蛋白尿则鲜有报道。其临床表现主要为非肾病范围的慢性孤立性蛋白尿。然而，迄今为止的研究结果表明，与该基因异常相关的孤立性蛋白尿是良性的，不影响肾功能的长期预后。我们鉴定出2例由复合杂合子基因突变引发的孤立性蛋白尿患者。在长达10年的随访期内，这两名患者的肾功能均保持正常，支持了该基因突变导致蛋白尿的良性性质。检测到两个新的突变位点，扩大了该基因突变的基因型谱。此外，本文对该疾病的病因、发病机制、临床表现、辅助检查及治疗进行了综述，旨在为临床管理提供进一步指导。
