nephrotic syndrome 2
A form of nephrotic syndrome (OMIM:600995) clinically characterised by severe proteinuria, hypoalbuminaemia, hyperlipidaemia and oedema. The disorder is steroid treatment resistant and progresses to end-stage renal failure, usually in the first or second decades of life.
Kidney biopsy Non-specific histologic changes–e.g., focal segmental glomerulosclerosis and diffuse mesangial proliferation.
Molecular pathology Defects of NPHS2, which encodes podocin, a glomerular protein that plays a role in regulating glomerular permeability, cause nephrotic syndrome 2.
Synonym Nephrotic syndrome—steroid-resistant—autosomal recessive