nephrotic syndrome 3

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nephrotic syndrome 32016-11-27T13:32:52+00:00

nephrotic syndrome 3

NEPHROLOGY 

A form of nephrotic syndrome* (OMIM:610725) that typically demonstrates diffuse mesangial sclerosis–expansion of mesangial matrix expansion without mesangial hypercellularity, podocyte hypertrophy, podocyte vacuolisation, thickened basement membranes, and reduced patency of capillary lumens.

*A condition characterised by severe proteinuria, which leads to the classic triad of hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes–e.g., focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some patients have a steroid-resistant form and progress to end-stage kidney disease. 

Molecular pathology Defects of PLCE1, which encodes a bifunctional enzyme that generates two second messengers: inositol 1,4,5-triphosphate and diacylglycerol and regulates small GTPases of the Ras superfamily through its Ras guanine-exchange factor–RasGEF activity, cause nephrotic syndrome 3. 

Reference http://www.uniprot.org/uniprot/Q9P212

http://www.omim.org/entry/610725  

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