nephrotic syndrome type 21

A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on

A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1.

Signs and symptoms

• Stage 5 chronic kidney disease
• Diffuse mesangial sclerosis
• Steroid-resistant nephrotic syndrome
• Podocyte foot process effacement

Also known as: NPHS21