title: AH amyloidosis associated with lymphoplasmacytic lymphoma secreting a monoclonal gamma heavy chain carrying an unusual truncated D segment.
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.
authors.affiliation: Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Takahisa
authors.initials: T
authors.lastname: Gono
authors.forename: Masahide
authors.initials: M
authors.lastname: Yazaki
authors.forename: Tomohisa
authors.initials: T
authors.lastname: Fushimi
authors.forename: Takefumi
authors.initials: T
authors.lastname: Suzuki
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Uehara
authors.forename: Kenji
authors.initials: K
authors.lastname: Sano
authors.forename: Fuyuki
authors.initials: F
authors.lastname: Kametani
authors.forename: Nobuo
authors.initials: N
authors.lastname: Ito
authors.forename: Masahiro
authors.initials: M
authors.lastname: Matsushita
authors.forename: Shigeo
authors.initials: S
authors.lastname: Nakamura
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Hoshii
authors.forename: Masayuki
authors.initials: M
authors.lastname: Matsuda
authors.forename: Shu-ichi
authors.initials: S
authors.lastname: Ikeda
mesh_terms: 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
chemical_list: D007143:Immunoglobulin Heavy Chains; D007142:Immunoglobulin gamma-Chains