Conditions / Genetic
nephrotic syndrome type 5
info · Genetic
A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.
Signs and symptoms
- Stage 5 chronic kidney disease
- Nephrotic syndrome
- Renal insufficiency
- Reduced visual acuity
- Diffuse mesangial sclerosis
- Rod-cone dystrophy
- Glomerulonephritis
- Hematuria
- Proteinuria
- Hypertension
Also known as: nephrotic syndrome type 5, with or without ocular abnormalities