Isolated benign persistent proteinuria with novel association of <i>CUBN</i> (cubilin) variants-Reference-Cited by-同舟云学术

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

Published:2023-06 Issue:6 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Shi Vivian¹²³,Stein Quinn⁴^ORCID,Clark Dinah⁴,Punj Sumit⁴,Kremsdorf Robin¹²³,Faizan Mohammed¹²³

Affiliation:

1. Warren Alpert Medical School of Brown University Rhode Island Providence USA

2. Department of Medicine, Rhode Island Hospital Rhode Island Providence USA

3. Department of Pediatrics, Hasbro Children’s Hospital Rhode Island Providence USA

4. Natera, Inc. Texas Austin USA

Abstract

Key Clinical MessageWe 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.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7502

Reference14 articles.

1. Relation Between Kidney Function, Proteinuria, and Adverse Outcomes

2. Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants

3. CUBN variants uncouple proteinuria from kidney function

4. A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

5. Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm

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