Relationship between podocyte gene and steroid resistant nephrotic syndrome / 国际儿科学杂志

ABSTRACT

Nephrotic syndrome is a clinical syndrome characterized by massive proteinuria, serum hypoalbuminemia, edema, hyperlipidemia.Most children can get relief with hormone therapy, but 15%~20% of children with hormone resistance eventually reach to end-stage nephropathy.Genes associated with steroid resistant nephrotic syndrome(SRNS)include NPHS1, NPHS2, CD2AP, TRPC6 encoding the slit diaphragm of podocytes, ACTN4 and INF2 encoding podocyte cytoskeleton proteins, WT1 encoding the nucleus of podocytes, COQ2 and COQ6 encoding mitochondrial proteins of podocytes, LAMB2 encoding glomerular basement membrane proteins.Research have found that one mutation in one of these molecules is enough to cause SRNS, so SRNS is also known as podocyte molecular disease.