nephrotic syndrome type 12

A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome

A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13.

Signs and symptoms

• Focal segmental glomerulosclerosis
• Steroid-resistant nephrotic syndrome
• Stage 5 chronic kidney disease
• Hematuria
• Diffuse mesangial sclerosis