Gono Takahisa, Yazaki Masahide, Fushimi Tomohisa, Suzuki Takefumi, Uehara Tsuyoshi, Sano Kenji, Kametani Fuyuki, Ito Nobuo, Matsushita Masahiro, Nakamura Shigeo, Hoshii Yoshinobu, Matsuda Masayuki, Ikeda Shu-ichi
Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
Am J Kidney Dis. 2006 May;47(5):908-14. doi: 10.1053/j.ajkd.2006.02.174.
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.
迄今为止，仅报告了7例与免疫球蛋白重链相关的淀粉样变性（AH淀粉样变性）病例。尽管AH淀粉样变性主要由浆细胞发育异常引起，与AL淀粉样变性一样，但我们报告了一名61岁的患者，该患者因与淋巴浆细胞淋巴瘤相关的AH淀粉样变性而出现肾病综合征。对沉积的淀粉样纤维和淋巴细胞重链基因进行的生化和分子分析表明，增殖性淋巴瘤细胞产生的是γ重链，而非μ重链，该γ重链携带可变区异常截短的多样性（D）片段。我们的结果表明，由部分缺失的D片段基因导致的异常重链产生是该患者γ重链相关淀粉样纤维形成的原因。
