nephrotic syndrome type 4

nephrotic syndrome type 4

A hereditary renal disorder (OMIM:256370) characterised clinically by proteinuria, hypoalbuminaemia, hyperlipidaemia and oedema, and pathologically by focal segmental glomerulosclerosis and diffuse mesangial sclerosis, hypertrophic and vacuolised podocytes, thickened basement membranes, and reduced patency of the capillary lumen. Some patients respond poorly to steroids and progress to end-stage renal failure.

Molecular pathology
Caused by defects of WTI, which encodes a transcription factor that plays an essential role in the normal development of the urogenital system.