A variant of unknown significance in the COL4A5 gene-related renal disease: A novel case report
| Autor: | Teresa Trinka, Mohammed Faizan |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | SAGE Open Medical Case Reports, Vol 12 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2050-313X 2050313X |
| DOI: | 10.1177/2050313X241275794 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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