A notable case report of May-Hegglin anomaly with immune complex-related nephropathy: a genetic and histological analysis

Clin Nephrol. 2011 Mar;75(3):255-62. doi: 10.5414/cnp75255.

Abstract

May-Hegglin anomaly (MHA) is a rare autosomal dominant disease characterized by macrothrombocytopenia and leukocyte inclusions with microfilaments in the ribosomes. Mutations in the MYH9 gene, encoding non-muscle myosin heavy chain IIA (NMMHC-IIA) have been identified in patients with MHA and other MYH9-related diseases. Two young males (an older and younger brother) presented with macrothrombocytopenia and leukocyte inclusion bodies. Electron microscopy (EM) revealed parallel filaments in leukocyte inclusion bodies characteristic of MHA. Immunofluorescence microscopy (IF) showed NMMHC-IIA antibodies in 1 - 2 leukocyte inclusion bodies. These findings were consistent with MHA and they were identified to express the MYH9 mutation, D1424H. The older brother underwent a renal biopsy because of persistent proteinuria. Histology revealed mesangial proliferative glomerulonephritis with granular deposits of IgG and C1q. EM showed that the dense deposits were located in subendothelial cells, mesangial cells and Bowman's capsule. Immunocytochemistry revealed that NMMHC-IIA antibodies were localized in podocyte and endothelial cells in the glomerulus. Moreover, the expression of nephrin and podocin, slit diagram protein, was normal. An inflammatory mechanism may occur separately from MYH9-related disease. This report presents a case of MHA with immune complex-related nephropathy.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Blood Platelets / pathology
  • Child
  • Child, Preschool
  • Complement C1q / analysis
  • DNA Mutational Analysis
  • Genetic Predisposition to Disease
  • Glomerulonephritis / blood
  • Glomerulonephritis / genetics*
  • Glomerulonephritis / immunology
  • Glomerulonephritis / pathology
  • Hearing Loss, Sensorineural
  • Humans
  • Immune Complex Diseases / blood
  • Immune Complex Diseases / genetics*
  • Immune Complex Diseases / immunology
  • Immune Complex Diseases / pathology
  • Immunoglobulin G / analysis
  • Immunohistochemistry
  • Inclusion Bodies / ultrastructure
  • Kidney / immunology
  • Kidney / pathology*
  • Kidney / ultrastructure
  • Leukocytes / ultrastructure
  • Male
  • Molecular Motor Proteins / genetics*
  • Mutation*
  • Myosin Heavy Chains / genetics*
  • Pedigree
  • Platelet Count
  • Thrombocytopenia / blood
  • Thrombocytopenia / genetics
  • Thrombocytopenia / immunology
  • Thrombocytopenia / pathology

Substances

  • Immunoglobulin G
  • MYH9 protein, human
  • Molecular Motor Proteins
  • Complement C1q
  • Myosin Heavy Chains

Supplementary concepts

  • MYH9-Related Disorders