Conditions / Genetic

nephrotic syndrome type 7

info ยท Genetic

A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene

A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22.

Signs and symptoms

  • Membranoproliferative glomerulonephritis
  • Proteinuria
  • Nephrotic syndrome
  • Hypoalbuminemia
  • Podocyte foot process effacement
  • Acute kidney injury
  • Thickened glomerular basement membrane
  • Stage 5 chronic kidney disease
  • Hemolytic-uremic syndrome
  • Hemolytic anemia

Also known as: Ig-mediated MPGN; Ig-mediated membranoproliferative glomerulonephritis; Immunoglobulin-mediated MPGN; immunoglobulin-mediated membranoproliferative glomerulonephritis; nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis