AH amyloidosis associated with lymphoplasmacytic lymphoma secreting a monoclonal gamma heavy chain carrying an unusual truncated D segment

Am J Kidney Dis. 2006 May;47(5):908-14. doi: 10.1053/j.ajkd.2006.02.174.

Abstract

To date, the presence of amyloidosis associated with immunoglobulin heavy chain (AH amyloidosis) was reported in only 7 cases. Although AH amyloidosis is caused mainly by plasma cell dyscrasia, as in AL amyloidosis, we report a 61-year-old patient who presented with nephrotic syndrome caused by AH amyloidosis associated with lymphoplasmacytic lymphoma. Biochemical and molecular analyses of the deposited amyloid fibrils and heavy-chain genes of lymphocytes showed that proliferative lymphoma cells produced a gamma heavy chain, not a mu heavy chain, which carried an unusual truncated diversity (D) segment of the variable region. Our results indicate that production of the abnormal heavy chain caused by the partially deleted D segment gene is responsible for gamma heavy-chain-related amyloid fibril formation in this patient.

Publication types

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

MeSH terms

  • Amyloidosis / complications*
  • Amyloidosis / immunology*
  • Female
  • Humans
  • Immunoglobulin Heavy Chains*
  • Immunoglobulin gamma-Chains / analysis
  • Immunoglobulin gamma-Chains / genetics
  • Immunoglobulin gamma-Chains / immunology*
  • Leukemia, Lymphocytic, Chronic, B-Cell / complications*
  • Leukemia, Lymphocytic, Chronic, B-Cell / immunology*
  • Middle Aged

Substances

  • Immunoglobulin Heavy Chains
  • Immunoglobulin gamma-Chains