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伴有玻璃体混浊的原发性家族性淀粉样变性。1例尸检病例报告。

Primary familial amyloidosis with vitreous opacities. Report of an autopsy case.

作者信息

Ogata J, Okayama M, Goto I, Inomata H, Yoshida I, Omae T

出版信息

Acta Neuropathol. 1978 Apr 26;42(1):67-70. doi: 10.1007/BF01273271.

DOI:10.1007/BF01273271
PMID:654882
Abstract

A 41-year-old Japanese male with a new type of primary familial amyloidosis was reported. The patient developed vitreous opacities, and later, disturbances in the gastrointestinal and nervous systems. At autopsy, amyloid was observed in the vitreous and the retinal vessels. There were extensive cerebral infarcts and heavy meningo-vascular amyloid deposition. Although the postmortem study revealed slight peripheral nerve degeneration in the lower extremities secondary to amyloid deposition, there was no clinical evidence of polyneuropathy.

摘要

报告了一名患有新型原发性家族性淀粉样变性的41岁日本男性。该患者出现玻璃体混浊,随后出现胃肠和神经系统紊乱。尸检时,在玻璃体和视网膜血管中观察到淀粉样物质。存在广泛的脑梗死和严重的脑膜血管淀粉样沉积。尽管尸检研究显示下肢因淀粉样沉积继发轻微的周围神经变性,但没有多神经病的临床证据。

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Primary familial amyloidosis with vitreous opacities. Report of an autopsy case.伴有玻璃体混浊的原发性家族性淀粉样变性。1例尸检病例报告。
Acta Neuropathol. 1978 Apr 26;42(1):67-70. doi: 10.1007/BF01273271.
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Vitreous amyloidosis without systemic or familial involvement.无全身或家族性累及的玻璃体淀粉样变性。
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Mol Psychiatry. 2017 Mar;22(3):353-363. doi: 10.1038/mp.2016.251. Epub 2017 Jan 17.
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A new method to classify amyloid fibril proteins.一种对淀粉样纤维蛋白进行分类的新方法。
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Novel histochemical approaches to the prealbumin-related senile and familial forms of systemic amyloidosis.

本文引用的文献

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PORTUGUESE POLYNEURITIC FAMILIAL TYPE OF AMYLOIDOSIS.葡萄牙型多神经炎家族性淀粉样变性
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Primary systemic amyloidosis: a review and an experimental, genetic, and clinical study of 29 cases with particular emphasis on the familial form.原发性系统性淀粉样变性:一项综述及对29例病例的实验、遗传和临床研究,特别关注家族性形式。
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A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves.
针对与前白蛋白相关的系统性淀粉样变性的老年型和家族型的新型组织化学方法。
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Immunohistochemical study of cerebral amyloid angiopathy. II. Enhancement of immunostaining using formic acid pretreatment of tissue sections.脑淀粉样血管病的免疫组织化学研究。II. 组织切片经甲酸预处理后免疫染色的增强
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Brain. 1952 Sep;75(3):408-27. doi: 10.1093/brain/75.3.408.
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The genetic aspect of the familial amyloidotic polyneuropathy. Portuguese type of paramyloidosis.家族性淀粉样多神经病的遗传学方面。葡萄牙型淀粉样变性病。
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Polyneuritic amyloidosis in a Japanese family.一个日本家族中的多神经炎型淀粉样变性病
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Hereditary amyloidosis.遗传性淀粉样变性病。
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Amyloidosis.淀粉样变性
N Engl J Med. 1967 Sep 7;277(10):522-30 contd. doi: 10.1056/NEJM196709072771006.
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The genetic amyloidoses with particular reference to hereditary neuropathic amyloidosis, type II (Indiana or Rukavina type).遗传性淀粉样变性病,特别提及遗传性神经病性淀粉样变性病II型(印第安纳型或鲁卡维纳型)
Medicine (Baltimore). 1969 Jan;48(1):1-37.
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Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer.遗传性全身性淀粉样变性易感性。一个伴有神经病变、肾病和消化性溃疡的家族的临床及病理研究。
Neurology. 1969 Jan;19(1):10-25. doi: 10.1212/wnl.19.1.10.
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Primary amyloidosis with familial vitreous opacities: an unusual case and family.伴有家族性玻璃体混浊的原发性淀粉样变性:一个罕见病例及家族情况
Arch Intern Med. 1978 Jan;138(1):105-11.