First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome

Arthritis Rheum. 2004 Sep;50(9):2966-9. doi: 10.1002/art.20490.

Abstract

Systemic reactive (AA) amyloidosis, leading to renal failure, is a severe complication of most hereditary periodic fever syndromes. The risk of developing this life-threatening condition varies widely among these disorders, being higher for patients affected by familial Mediterranean fever and tumor necrosis factor receptor-associated periodic syndrome. In spite of an acute-phase response during attacks, amyloidosis has never, to date, been described in patients affected with the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS). This is the first report to describe the occurrence of renal AA amyloidosis causing severe nephrotic syndrome in a young Italian man affected with HIDS. The diagnosis of HIDS was established according to clinical, laboratory, and genetic criteria as required by the international Nijmegen HIDS registry. In this patient, 2 mutations in the mevalonate kinase gene were identified, one of which, the leucine-to-arginine substitution at codon 265, is novel.

Publication types

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

MeSH terms

  • Adult
  • Amyloidosis / etiology
  • Amyloidosis / immunology*
  • Familial Mediterranean Fever / complications
  • Familial Mediterranean Fever / genetics*
  • Familial Mediterranean Fever / immunology*
  • Humans
  • Hypergammaglobulinemia / complications
  • Hypergammaglobulinemia / immunology*
  • Immunoglobulin D / immunology
  • Male
  • Nephrotic Syndrome / etiology
  • Nephrotic Syndrome / physiopathology
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Serum Amyloid A Protein / immunology

Substances

  • Immunoglobulin D
  • Serum Amyloid A Protein
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase