Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy
Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy
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DOI：
10.1212/01.wnl.0000132966.36437.12
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发表时间：
2004-07-13
期刊：
影响因子：
9.9
通讯作者：
Sobue, G
中科院分区：
文献类型：
--
作者：
Koike, H;Misu, K;Sobue, G
背景资料：迟发性I型家族性淀粉样多发性神经病（FAP TTR Met 30）病例与日本的地方性病灶无关，其临床特征与地方性病灶的早发性病例不同。目的：比较早发型与晚发型乳腺癌的病理特点。研究方法：本文对11例50岁以前发病的FAP TTR Met 30与流行区有关的病例和11例与流行区无关的迟发性FAP TTR Met 30的病理学表现进行了比较。结果如下：腓肠神经活检标本显示，主要是小纤维损失在早发性病例，可变的纤维大小分布，轴突发芽，和相对保存的无髓纤维晚发性病例的特点。代表两组的尸检病例显示淀粉样蛋白沉积遍及神经的长度以及交感神经节和感觉神经节，但在早发病例中量更大。在早发性病例中，交感神经节的淀粉样蛋白沉积和神经元细胞丢失大于背根神经节;在晚发性病例中，情况正好相反。对这些神经节中剩余神经元的大小评估表明，在早发性病例中主要损失小神经元，但在晚发性病例中损失所有大小的神经元。甲状腺素运载蛋白阳性，刚果红阴性的无定形物质在晚发型病例的神经中比早发型病例更明显。在神经病变部位，淀粉样蛋白在早发病例的甲状腺和肾脏以及晚发病例的心脏和垂体中更为明显。在早发病例中，心脏淀粉样蛋白沉积在心房和内膜下显著，但在晚发病例中，整个心肌都很明显。结论：早发型和晚发型FAP TTR Met 30的病理与临床表现的差异相关。
Background: Late-onset type I familial amyloid polyneuropathy (FAP TTR Met30) cases unrelated to endemic foci in Japan show clinical features setting them apart from early-onset cases in endemic foci. Objective: To compare pathologic features between the early- and late-onset types. Methods: Pathologic findings in FAP TTR Met30 with onset before age 50 in relation to endemic foci (11 cases) were compared with those in 11 later-onset cases unrelated to endemic foci. Results: Sural nerve biopsy specimens showed predominantly small-fiber loss in early-onset cases; variable fiber size distribution, axonal sprouting, and relatively preserved unmyelinated fibers characterized late-onset cases. Autopsy cases representing both groups showed amyloid deposition throughout the length of nerves and in sympathetic and sensory ganglia, but amounts were greater in early- onset cases. Amyloid deposition and neuronal cell loss were greater in sympathetic than dorsal root ganglia in early-onset cases; the opposite was true in late-onset cases. Size assessment of remaining neurons in these ganglia suggested predominant loss of small neurons in early-onset cases but loss of neurons of all sizes in late-onset cases. Transthyretin-positive, Congo red-negative amorphous material was more conspicuous in nerves from late- than early-onset cases. In extraneural sites, amyloid was more conspicuous in thyroid and kidney from early-onset cases and in heart and hypophysis from late- onset cases. In early-onset cases, cardiac amyloid deposition was prominent in the atrium and subendocardium but was conspicuous throughout the myocardium in late- onset cases. Conclusion: The pathology of early- and late-onset FAP TTR Met30 correlated well with differences in clinical findings.