nephrotic syndrome 3
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.