nephrotic syndrome type 9

A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q

A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13.

Signs and symptoms

• Stage 5 chronic kidney disease
• Steroid-resistant nephrotic syndrome
• Focal segmental glomerulosclerosis
• Hypoalbuminemia
• Proteinuria
• Edema
• Glomerular sclerosis