A variant of unknown significance in the COL4A5 gene-related renal disease: A novel case report.
SAGE Open Med Case Rep
; 12: 2050313X241275794, 2024.
Article
en En
| MEDLINE
| ID: mdl-39185063
ABSTRACT
In this case report, we report our findings of a variant of uncertain significance in the COL4A5 gene in four family members. Patient 0 is a 16-year-old female with no prior medical history referred to Pediatric Nephrology for the evaluation of microscopic hematuria. Upon further investigation, she was found to have a family history of both microscopic hematuria and kidney disease, prompting genetic testing and intimation of a possible cause and inheritance pattern for kidney disease and hematuria in the COL4A5 gene.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
SAGE Open Med Case Rep
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos