This case examines the interplay of COL4A5 and APOE variants in kidney failure, focusing on genetic intricacies.
Utilized kidney biopsy for diagnosis
Applied whole exome sequencing (WES) to identify genetic variants
Analyzed the implications of genetic variants on kidney health
Demonstrated a complex genetic basis for kidney failure
Highlighted the role of APOE Kyoto variant showing incomplete penetrance in Chinese carriers
Confirmed the necessity of combining biopsy with genetic testing for accurate diagnosis
Abstract
This case highlights the complementary role of kidney biopsy alongside WES in AS with complex genetic mechanisms. It also illustrates the incomplete penetrance of APOE Kyoto, common among Chinese carriers.