Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants

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 fo...

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Autores principales: Shi, Vivian, Stein, Quinn, Clark, Dinah, Punj, Sumit, Kremsdorf, Robin, Faizan, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258721/
https://www.ncbi.nlm.nih.gov/pubmed/37312928
http://dx.doi.org/10.1002/ccr3.7502
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author Shi, Vivian
Stein, Quinn
Clark, Dinah
Punj, Sumit
Kremsdorf, Robin
Faizan, Mohammed
author_facet Shi, Vivian
Stein, Quinn
Clark, Dinah
Punj, Sumit
Kremsdorf, Robin
Faizan, Mohammed
author_sort Shi, Vivian
collection PubMed
description 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.
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spelling pubmed-102587212023-06-13 Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants Shi, Vivian Stein, Quinn Clark, Dinah Punj, Sumit Kremsdorf, Robin Faizan, Mohammed Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2023-06-12 /pmc/articles/PMC10258721/ /pubmed/37312928 http://dx.doi.org/10.1002/ccr3.7502 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Shi, Vivian
Stein, Quinn
Clark, Dinah
Punj, Sumit
Kremsdorf, Robin
Faizan, Mohammed
Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants
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 Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258721/
https://www.ncbi.nlm.nih.gov/pubmed/37312928
http://dx.doi.org/10.1002/ccr3.7502
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