Conditions / Genetic

focal segmental glomerulosclerosis 1

info · Genetic · ICD-10: N04.1

A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2.

Signs and symptoms

  • Stage 5 chronic kidney disease
  • Pleural effusion
  • Ascites
  • Reduced renal corticomedullary differentiation
  • Focal segmental glomerulosclerosis
  • Proteinuria
  • Anemia
  • Hyperechogenic kidneys
  • Hypertension
  • Hyperlipidemia

Also known as: FSGS1