Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants
Key Clinical Message We present two siblings with persistent proteinuria and normal kidney function, each carrying the same compound heterozygous variants in the CUBN gene. The CUBN‐related phenotype appears to be dependent upon both variant type and the domain site within the gene. Knowledge of CUB...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-06-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.7502 |
| _version_ | 1827912913119084544 |
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| author | Vivian Shi Quinn Stein Dinah Clark Sumit Punj Robin Kremsdorf Mohammed Faizan |
| author_facet | Vivian Shi Quinn Stein Dinah Clark Sumit Punj Robin Kremsdorf Mohammed Faizan |
| author_sort | Vivian Shi |
| collection | DOAJ |
| description | Key Clinical Message We present two siblings with persistent proteinuria and normal kidney function, each carrying the same compound heterozygous variants in the CUBN gene. The CUBN‐related phenotype appears to be dependent upon both variant type and the domain site within the gene. Knowledge of CUBN status may allow for avoidance of invasive testing. |
| first_indexed | 2024-03-13T02:23:03Z |
| format | Article |
| id | doaj.art-6bd85255ff0148829f54a97875cdc189 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-03-13T02:23:03Z |
| publishDate | 2023-06-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-6bd85255ff0148829f54a97875cdc1892023-06-30T07:34:07ZengWileyClinical Case Reports2050-09042023-06-01116n/an/a10.1002/ccr3.7502Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variantsVivian Shi0Quinn Stein1Dinah Clark2Sumit Punj3Robin Kremsdorf4Mohammed Faizan5Warren Alpert Medical School of Brown University Rhode Island Providence USANatera, Inc. Texas Austin USANatera, Inc. Texas Austin USANatera, Inc. Texas Austin USAWarren Alpert Medical School of Brown University Rhode Island Providence USAWarren Alpert Medical School of Brown University Rhode Island Providence USAKey Clinical Message We present two siblings with persistent proteinuria and normal kidney function, each carrying the same compound heterozygous variants in the CUBN gene. The CUBN‐related phenotype appears to be dependent upon both variant type and the domain site within the gene. Knowledge of CUBN status may allow for avoidance of invasive testing.https://doi.org/10.1002/ccr3.7502cubilin genegenetic testingkidneymonogenicpersistent proteinuria |
| spellingShingle | Vivian Shi Quinn Stein Dinah Clark Sumit Punj Robin Kremsdorf Mohammed Faizan Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants Clinical Case Reports cubilin gene genetic testing kidney monogenic persistent proteinuria |
| title | Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants |
| title_full | Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants |
| title_fullStr | Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants |
| title_full_unstemmed | Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants |
| title_short | Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants |
| title_sort | isolated benign persistent proteinuria with novel association of cubn cubilin variants |
| topic | cubilin gene genetic testing kidney monogenic persistent proteinuria |
| url | https://doi.org/10.1002/ccr3.7502 |
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