Molecular genetic studies on pathogenesis and mechanism of progression for focal segmental glomerulosclerosis in Children

点击翻译按钮获取中文摘要

Background. Mutations of NPHS2 are associated with autosomal recessive steroid-resistant nephrotic syndrome, which is characterized by early childhood onset of proteinuria, focal segmental glomerulosclerosis (FSGS) and rapid progression to end-stage renal disease (ESRD).Methods. We analyzed the NPHS2 gene in patients with FSGS. We generated rabbit polyclonal antibodies against conjugated peptides from human podocin, and studied podocin using kidney tissues of normal humans and those with FSGS.Results and Conclusions. We did not find any mutation in 6 patients with familial FSGS or FSGS progressive to ESRD. Immuno-histochemically, podocin was detected in a linear pattern along the glomerular capillary loop. Podocin was either decreased or absent in most subjects (70%) with FSGS. Of seven FSGS patients with absence of podocin expression, two (20%) progressed to ESRD. We propose that absence of podocin expression may be bad prognosis.