Dense deposit disease and the factor H H402 allele

Clin Exp Nephrol. 2008 Jun;12(3):228-32. doi: 10.1007/s10157-008-0031-z. Epub 2008 Jan 26.

Abstract

Herein, we describe the case of an 8-year-old boy who presented with a nephritic nephrotic syndrome. His laboratory investigation was significant for a persistently low serum complement 3 level. A renal biopsy was performed, based on which, he was diagnosed with dense deposit disease/membranoproliferative glomerulonephritis type II (DDD/MPGN II). He was treated with alternate-day oral corticosteroids, angiotensin-converting enzyme (ACE) inhibitors and tacrolimus. Factor H mutational analysis showed the Y402H and I62V allele polymorphisms. The purpose of our report is to discuss the association of the H402 allele variant of factor H with the DDD/MPGN II phenotype and its possible therapeutic implications.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Cortex Hormones / therapeutic use
  • Alleles*
  • Angiotensin-Converting Enzyme Inhibitors / therapeutic use
  • Child
  • Chromosome Mapping
  • Complement Factor H / genetics*
  • Drug Therapy, Combination
  • Glomerulonephritis, Membranoproliferative / diagnosis*
  • Glomerulonephritis, Membranoproliferative / drug therapy
  • Glomerulonephritis, Membranoproliferative / genetics*
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Male
  • Polymorphism, Genetic / genetics*
  • Tacrolimus / therapeutic use

Substances

  • Adrenal Cortex Hormones
  • Angiotensin-Converting Enzyme Inhibitors
  • Immunosuppressive Agents
  • Complement Factor H
  • Tacrolimus