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免疫球蛋白轻链(AL型)淀粉样变性及轻链和重链沉积病的预后和治疗

Author
S Vincent Rajkumar, MD
Section Editors
Richard J Glassock, MD, MACP
Robert A Kyle, MD
Steve J Schwab, MD
Deputy Editor
Rebecca F Connor, MD
Translators
邱志祥, 副主任医师

引言

免疫球蛋白轻链(AL型)淀粉样变性(以前称原发性淀粉样变性)、轻链沉积病(light chain deposition disease, LCDD)和重链沉积病(heavy chain deposition disease, HCDD)是以轻链或重链片段在组织中沉积，导致器官功能障碍的单克隆浆细胞增殖性疾病。AL型淀粉样变性的发病率是多发性骨髓瘤的大约1/10。在大约10%的AL型淀粉样变性患者中，首次诊断时也存在多发性骨髓瘤；这些患者的临床病程和治疗取决于在终末器官损伤和症状方面，这两种疾病哪种占主要地位。诊断时为单纯AL型淀粉样变性的患者中有不到1%会在之后出现多发性骨髓瘤。

本专题将详细总结AL型淀粉样变性的预后及治疗。LCDD和HCDD的治疗也将作简要总结。这些疾病的发病机制、临床特点和诊断，以及原发性淀粉样变性的诊断将单独详细讨论。 (参见“Pathogenesis of immunoglobulin light chain (AL) amyloidosis and light and heavy chain deposition diseases”和“免疫球蛋白轻链淀粉样变(原发性淀粉样变)的临床表现、实验室表现和诊断”)

治疗前评估

评估 — 为了最好地治疗AL型淀粉样变性患者，初始评估时必须证实诊断，确定病变的程度和部位，并评估是否存在可能影响治疗选择的共存疾病。AL型淀粉样变性的诊断参见其他专题。 (参见“免疫球蛋白轻链淀粉样变(原发性淀粉样变)的临床表现、实验室表现和诊断”)

除了病史和体格检查外，我们在实践中还会对AL型淀粉样变性患者进行下述治疗前检查：

●实验室检查包括全血细胞计数和分类计数、肝肾功能和电解质生化检查、凝血酶原时间(prothrombin time, PT)、部分凝血活酶时间(partial thromboplastin time, PTT)、血清和尿液电泳、血清和尿液免疫电泳、血清游离轻链(free light chain, FLC)分析、24小时尿蛋白和肌酐清除率、脑纳肽(brain natriuretic peptide, BNP)、肌钙蛋白、N末端脑钠肽前体(N-terminal pro-brain natriuretic peptide, NT-proBNP)、促甲状腺素(thyroid stimulating hormone, TSH)和皮质醇水平。对于有异常出血或异常PT/PTT检查结果的患者，还应检查凝血因子Ⅹ的水平。

                            

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Literature review current through: 2017-06 . | This topic last updated: 2017-07-17.
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