AH amyloidosis associated with lymphoplasmacytic lymphoma secreting a monoclonal gamma heavy chain carrying an unusual truncated D segment.
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.
Gono
Takahisa
T
Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
Yazaki
Masahide
M
Fushimi
Tomohisa
T
Suzuki
Takefumi
T
Uehara
Tsuyoshi
T
Sano
Kenji
K
Kametani
Fuyuki
F
Ito
Nobuo
N
Matsushita
Masahiro
M
Nakamura
Shigeo
S
Hoshii
Yoshinobu
Y
Matsuda
Masayuki
M
Ikeda
Shu-ichi
S
D000686:Amyloidosis / Q000150:complications* / Q000276:immunology*; D005260:Female; D006801:Humans; D007143:Immunoglobulin Heavy Chains; D007142:Immunoglobulin gamma-Chains / Q000032:analysis / Q000235:genetics / Q000276:immunology*; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000150:complications* / Q000276:immunology*; D008875:Middle Aged
D007143:Immunoglobulin Heavy Chains; D007142:Immunoglobulin gamma-Chains