ARHGDIA 突变通过缺陷RHO鸟苷三磷酸酶信号通路导致肾病综合症

Introduction

Nephrotic syndrome (NS) is caused by malfunction of the kidney glomerular filter, resulting in proteinuria, hypoalbuminemia, and edema. NS is classified by its response to steroid treatment into steroid-sensitive nephrotic syndrome (SSNS) and steroid-resistant nephrotic syndrome (SRNS) categories. SSNS represents one of the most frequent kidney diseases and constitutes 80% of all childhood NS. Histologically, it presents as minimal change nephrotic syndrome (MCNS). Very little is known about its primary causes, disease processes, or mechanisms of treatment. SRNS is mostly refractory to therapy and leads to end-stage kidney disease (ESKD) within a few years of onset, requi