NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome
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The idiopathic nephrotic syndrome is a common clinicopathological entity characterized by massive proteinuria, hypoalbuminaemia, hyperlipidaemia, oedema, and various glomerular changes, occurring mainly in children in 15–20% of whom the condition is steroid-resistant. About 85% of patients with steroid-resistant nephrotic syndrome (SRNS) exhibit renal histology of focal segmental glomerulosclerosis (FSGS), and the rest exhibit mesangial proliferative glomerulonephritis (MsPGN) or other rarer histological phenotypes . Mutations in the NPHS2 gene, encoding podocin, which is one of the important proteins of the slit diaphragm, are a frequent cause of sporadic SRNS in children, occurring in 2.8–28% of the cases [2, 3, 4]. Mutations in exons 8 and 9 of the WT1 gene have also been reported (more frequently in girls) with isolated SRNS . Other genes that are responsible have been recently reported, accounting for rare cases of SRNS.
KeywordsNephrotic Syndrome Focal Segmental Glomerulosclerosis Idiopathic Nephrotic Syndrome Proliferative Glomerulonephritis Mesangial Proliferative Glomerulonephritis
This work was funded mainly through a grant by the Cyprus Research Promotion Foundation, ΕΝΙΣΧ/0505/02, and partly by the Cyprus Ministry of Health, the Cyprus Kidney Association (scholarship to K.V.) and the University of Cyprus (Research Activities 3/312).
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