nephrotic syndrome 2

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nephrotic syndrome 22016-11-27T13:29:47+00:00

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  


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