Thrombotic microangiopathy mimicking membranoproliferative glomerulonephritis

Nephrol Dial Transplant. 2011 Oct;26(10):3399-403. doi: 10.1093/ndt/gfr422. Epub 2011 Aug 1.

Abstract

A 4-year-old boy presented with proteinuria and developed progressive renal failure over 6 years. In the patient's family, five individuals were affected with atypical haemolytic uraemic syndrome (aHUS) but not the patient. Renal biopsies (n = 3) showed glomerular basement membrane thickening with double contours, endothelial swelling and deposits of C3 and C1q. Electron microscopy revealed mesangial and subendothelial electron-dense deposits. Complement mutations in membrane cofactor protein (Y155D) and C3 (R713W and G1094R) were detected in all affected family members. The patient also had transient autoantibodies to factor H. The findings suggest that aHUS and glomerulopathy resembling membranoproliferative glomerulonephritis may have a common molecular background.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Complement C3 / genetics
  • Diagnosis, Differential
  • Female
  • Glomerulonephritis, Membranoproliferative / diagnosis*
  • Glomerulonephritis, Membranoproliferative / etiology
  • Humans
  • Kidney Failure, Chronic / etiology*
  • Male
  • Membrane Cofactor Protein / genetics
  • Mutation / genetics
  • Pedigree
  • Polymerase Chain Reaction
  • Prognosis
  • Proteinuria / complications*
  • Thrombotic Microangiopathies / diagnosis*
  • Thrombotic Microangiopathies / etiology

Substances

  • Complement C3
  • Membrane Cofactor Protein