关键词: 瞬时受体电位阳离子通道蛋白 6, 基因突变, 足细胞病, 裂孔膜, 蛋白尿 

Abstract: Transient channel receptor potential cation 6 (TRPC6) is one of the most essential proteins of the slit diaphragm (SD) on podocytes in the kidney. It interacts with the actin, surface proteins, and other SD components to keep the podocytes functioning normally. The over activation of TRPC6 causes intracellular calcium overload, which injures or destroys podocytes. It is now known that a pathogenic mutation in the TRPC6 gene might cause focal segmental glomerulosclerosis. TRPC6 has been linked to the onset and progression of proteinuric kidney disease in recent researches. However, there is no particular targeted medication for the clinical therapeutics. The molecular mechanisms of podocytes injuries due to TRPC6, as well as the relationship between genetic mutations in TRPC6 and clinical phenotypes are discussed in this review

Key words: TRPC6, genetic mutation, podocytopathy, slit diaphragm, proteinuria