nephrotic syndrome type 23

A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compou

A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1.

Signs and symptoms

• Proteinuria
• Steroid-resistant nephrotic syndrome
• Mesangial hypercellularity
• Focal segmental glomerulosclerosis
• Podocyte foot process effacement
• Minimal change glomerulonephritis

Also known as: NPHS23