Conditions / Genetic

nephrotic syndrome type 13

info ยท Genetic

A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33.

Signs and symptoms

  • Stage 5 chronic kidney disease
  • Focal segmental glomerulosclerosis
  • Steroid-resistant nephrotic syndrome