A variant of unknown significance in the COL4A5 gene-related renal disease: A novel case report

COL4A5基因相关肾脏疾病中一种意义不明的变异:一例新病例报告

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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.

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