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首页> 外文期刊>Amyloid: the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis >Twists and turns of determining amyloid type and amyloid-related organ damage: Discordance and clinical skepticism in the era of proteomic typing
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Twists and turns of determining amyloid type and amyloid-related organ damage: Discordance and clinical skepticism in the era of proteomic typing

机译:确定淀粉样蛋白类型和淀粉样蛋白相关器官损伤的波折:蛋白质组学分型时代的矛盾和临床怀疑

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摘要

Systemic immunoglobulin light-chain primary amyloidosis (AL) is the most common type of systemic amyloidosis. Recent advances in AL amyloidosis include the use of definitive proteomic typing, confirming the type of amyloid in patients with two possible amyloid-forming proteins. Laser microdissection followed by mass spectrometry (LMD/MS) can correctly identify the amyloid type with over 95% sensitivity and specificity. We report the case of a 68-year-old man with a history of IgA lambda monoclonal gammopathy and peripheral neuropathy who was diagnosed with pelvic nodal and psoas amyloidosis. The amyloid was found to be AL kappa type by LMD/MS. While LMD/MS has been effective in distinguishing among AL, secondary amyloidosis and hereditary forms of amyloidosis, our case demonstrates that typing can also identify unusual instances of discordance between light chain isotypes associated with clonal processes.
机译:系统性免疫球蛋白轻链原发性淀粉样变性(AL)是最常见的系统性淀粉样变性。 AL淀粉样变性的最新进展包括确定性蛋白质组学类型的使用,证实了具有两种可能的淀粉样蛋白形成蛋白的患者的淀粉样蛋白类型。激光显微切割后再进行质谱分析(LMD / MS)可以正确识别超过95%的敏感性和特异性的淀粉样蛋白类型。我们报告了一个68岁的男人的病例,这个男人有IgAλ单克隆丙种球蛋白病和周围神经病的病史,被诊断患有盆腔淋巴结和腰大肌淀粉样变性病。通过LMD / MS发现淀粉样蛋白是ALκ型。尽管LMD / MS在区分AL,继发性淀粉样变性病和遗传性淀粉样变性病形式方面已经很有效,但我们的案例表明,分型也可以识别与克隆过程相关的轻链同种型之间不一致的异常情况。

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