Conditions / Genetic
nephrotic syndrome type 3
info · Genetic
A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23.
Signs and symptoms
- Nephrotic syndrome
- Diffuse mesangial sclerosis
- Stage 5 chronic kidney disease
- Edema
- Hypoalbuminemia
- Proteinuria
- Focal segmental glomerulosclerosis
Also known as: early onset nephrotic syndrome type 3