Isolated Proteinuria Caused by CUBN Gene Mutations: A Case Report and Review of the Literature
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...
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| Format: | Article |
| Language: | English |
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Karger Publishers
2023-05-01
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| Series: | Case Reports in Nephrology and Dialysis |
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| Online Access: | https://beta.karger.com/Article/FullText/530466 |
| _version_ | 1797797615797010432 |
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| author | Jingyang Ran Qingsong Chen Yudong Hu Pengfei Yang Guiquan Yu Xiaohui Liao Jianrong Lei |
| author_facet | Jingyang Ran Qingsong Chen Yudong Hu Pengfei Yang Guiquan Yu Xiaohui Liao Jianrong Lei |
| author_sort | Jingyang Ran |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-13T03:51:02Z |
| format | Article |
| id | doaj.art-9e5389ed90104d1d93abbbee40d273a8 |
| institution | Directory Open Access Journal |
| issn | 2296-9705 |
| language | English |
| last_indexed | 2024-03-13T03:51:02Z |
| publishDate | 2023-05-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Nephrology and Dialysis |
| spelling | doaj.art-9e5389ed90104d1d93abbbee40d273a82023-06-22T13:45:57ZengKarger PublishersCase Reports in Nephrology and Dialysis2296-97052023-05-01131273510.1159/000530466530466Isolated Proteinuria Caused by CUBN Gene Mutations: A Case Report and Review of the LiteratureJingyang Ran0Qingsong Chen1Yudong Hu2Pengfei Yang3Guiquan Yu4Xiaohui Liao5https://orcid.org/0000-0002-2329-0456Jianrong Lei6Nephrology Department, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaNephrology Department, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaNephrology Department, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaNephrology Department, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaNephrology Department, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaNephrology Department, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaNephrology Department, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaMutations 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.https://beta.karger.com/Article/FullText/530466cubn genegene mutationisolated proteinuria |
| spellingShingle | Jingyang Ran Qingsong Chen Yudong Hu Pengfei Yang Guiquan Yu Xiaohui Liao Jianrong Lei Isolated Proteinuria Caused by CUBN Gene Mutations: A Case Report and Review of the Literature Case Reports in Nephrology and Dialysis cubn gene gene mutation isolated proteinuria |
| title | Isolated Proteinuria Caused by CUBN Gene Mutations: A Case Report and Review of the Literature |
| title_full | Isolated Proteinuria Caused by CUBN Gene Mutations: A Case Report and Review of the Literature |
| title_fullStr | Isolated Proteinuria Caused by CUBN Gene Mutations: A Case Report and Review of the Literature |
| title_full_unstemmed | Isolated Proteinuria Caused by CUBN Gene Mutations: A Case Report and Review of the Literature |
| title_short | Isolated Proteinuria Caused by CUBN Gene Mutations: A Case Report and Review of the Literature |
| title_sort | isolated proteinuria caused by cubn gene mutations a case report and review of the literature |
| topic | cubn gene gene mutation isolated proteinuria |
| url | https://beta.karger.com/Article/FullText/530466 |
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