Conditions / Genetic
nephrotic syndrome type 8
info · Genetic
A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25.
Signs and symptoms
- Nephrotic syndrome
- Hypoalbuminemia
- Proteinuria
- Diffuse mesangial sclerosis
- Stage 5 chronic kidney disease
- Seizure
- Thin glomerular basement membrane
- Chronic kidney disease
- Edema
- Cerebral visual impairment