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Isolated benign persistent proteinuria with novel association of CUBN (cubilin) variants.
Shi, Vivian; Stein, Quinn; Clark, Dinah; Punj, Sumit; Kremsdorf, Robin; Faizan, Mohammed.
Afiliação
  • Shi V; Warren Alpert Medical School of Brown University Rhode Island Providence USA.
  • Stein Q; Department of Medicine, Rhode Island Hospital Rhode Island Providence USA.
  • Clark D; Department of Pediatrics, Hasbro Children's Hospital Rhode Island Providence USA.
  • Punj S; Natera, Inc. Texas Austin USA.
  • Kremsdorf R; Natera, Inc. Texas Austin USA.
  • Faizan M; Natera, Inc. Texas Austin USA.
Clin Case Rep ; 11(6): e7502, 2023 Jun.
Article em En | MEDLINE | ID: mdl-37312928
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Clin Case Rep Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: Clin Case Rep Ano de publicação: 2023 Tipo de documento: Article