Heterozygous COL4A3 Variants in Histologically Diagnosed Focal Segmental Glomerulosclerosis

[摘要] Introduction: Steroid-resistant nephrotic syndrome (SRNS) is one of the most frequent causes for chronic kidney disease in childhood. In ~30% of these cases a genetic cause can be identified. The histological finding in SRNS is often focal segmental glomerulosclerosis (FSGS). In rare cases, however, pathogenic variants in genes associated with Alport syndrome can be identified in patients with the histological finding of FSGS.

[学科分类] 儿科学

[关键词] Alport syndrome;COL4A3;focal segmental glomerulosclerosis;FSGS;nephrotic syndrome;hearing impairment