nephrotic syndrome 2

Home » Classic Medicine » Nephrology » nephrotic syndrome 2
nephrotic syndrome 22016-11-27T13:29:47+00:00

nephrotic syndrome 2 

NEPHROLOGY

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  

References http://www.uniprot.org/uniprot/Q9NP85

http://www.omim.org/entry/600995

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.