Development of systemic λ-light chain amyloidosis in a patient with γ-heavy chain deposition disease during long-term follow-up
Development of systemic λ-light chain amyloidosis in a patient with γ-heavy chain deposition disease during long-term follow-up
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DOI：
10.1093/ndt/gfh545
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发表时间：
2005-02-01
影响因子：
6.1
通讯作者：
Sawada, K
中科院分区：
文献类型：
--
作者：
Komatsuda, A;Maki, N;Sawada, K
重链沉积病（HCDD）是一种肾脏单克隆免疫球蛋白沉积病，组织学特征为存在结节性肾小球硬化和单克隆重链无相关轻链的非淀粉样沉积[1]。1993年，Aucouturier et al. [2]报告了第一个有记录的案例，并定义了HCDD的概念。他们认为，g重链第一个恒定结构域（CH 1）的缺失是该疾病的标志。1992年，Tubbs et al. [3]描述了两名结节性肾小球硬化症患者，其g重链沉积与轻链无关，但使用了术语“假g重链沉积病”。在这些患者中，未进行异常IgG的免疫化学分析。虽然自首次记录和定义六氯二苯并对二恶英概念以来已经过去了10年以上，但有关六氯二苯并对二恶英的报告仍然极为罕见[1（及其参考文献），4-8]。这种疾病的自然史是未知的，因为缺乏对大多数以前报告的病例的后续信息。我们以前曾描述过HCDD患者的临床和免疫病理学特征[9]。随后对患者血清的免疫化学分析显示，CH 1缺失的g1重链游离和未组装地循环。还发现了具有非缺失重链组分的单克隆IgG 1-l [10]。在长期随访期间，该患者除HCCD外，还出现全身性轻链（AL）淀粉样变性，并死于心力衰竭和脑梗死。据我们所知，这是第一个报告AL淀粉样变性异时发展的HCDD患者。
Heavy chain deposition disease (HCDD) is one of the renal monoclonal immunoglobulin deposition diseases, histologically characterized by the presence of nodular glomerulosclerosis and non-amyloidogenic deposits of monoclonal heavy chains without associated light chains [1]. In 1993, Aucouturier et al.[2] reported the first documented cases and defined the concept of HCDD. They suggested that the deletion of the first constant domain (CH1) of g-heavy chains is the hallmark of the disease. In 1992, Tubbs et al.[3] described two patients with nodular glomerulosclerosis with deposits of g-heavy chains unassociated with light chains, but used the term ‘pseudo-g heavy chain deposition disease’. In these patients, immunochemical analyses of abnormal IgG were not performed. Although> 10 years have passed since its first documentation and definition of the concept of HCDD, reports of HCDD remain extremely rare [1 (and references therein), 4–8]. The natural history of this disease is unknown, because follow-up information on most previously reported cases is lacking. We previously have described clinical and immunopathological features of a patient with HCDD [9]. Subsequent immunochemical analysis of the patient’s serum showed that the CH1-deleted g1-heavy chain circulated free and unassembled. A monoclonal IgG1-l with a non-deleted heavy chain component was also found [10]. During long-term follow-up, this patient developed systemic light chain (AL) amyloidosis, in addition to HCDD, and died of heart failure and cerebral infarction. To our knowledge, this is the first report of the metachronous development of AL amyloidosis in a patient with HCDD.