Genetic aspects of amyloidosis.
Genetic aspects of amyloidosis.
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淀粉样变性的遗传方面。
DOI：
10.1007/978-1-4684-5958-6_2
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发表时间：
1991
影响因子：
--
通讯作者：
Buxbaum,JN
中科院分区：
文献类型：
--
作者：
Jacobson,DR;Buxbaum,JN
淀粉样变性是以不溶性蛋白原纤维的细胞外积累为特征的疾病。从世纪Virchow最初的病理描述到20世纪70年代初，单一淀粉样物质的概念占主导地位，系统性淀粉样综合征根据临床基础进行分类，即淀粉样沉积的解剖分布和相关的临床表现。最广泛接受的疾病分类学只承认三种基本类型的系统性淀粉样变性，“继发性”，“家族性”和“原发性”（除了局限于单个器官的罕见形式的淀粉样变性）。因此，淀粉样物质在肾、肝和脾中的沉积与慢性炎症过程如结核和类风湿性关节炎有关，被称为”继发性淀粉样变性“。“家族性淀粉样变性因其独特的临床表现和阳性家族史而被认识到。所有其他类型的淀粉样变性，除了与肿瘤多发性骨髓瘤有关的，被称为”原发性”，在”特发性”的意义上;这一类别包括未被识别的遗传形式，”继发性”淀粉样变性没有确定的原因，和局部淀粉样变性。许多淀粉样蛋白沉积的病例未能完全符合规定的临床和组织学检查，
The amyloidoses are diseases characterized by the extracellular accumulation of insoluble protein fibrils. From the initial pathologic description by Virchow in the mid-19th century until the early 1970s, the idea of a single amyloid substance was dominant, and the systemic amyloid syndromes were classified on clinical grounds, ie, the anatomic distribution of amyloid deposition and the associated clinical findings. The most widely accepted nosology acknowledged only three basic types of systemic amyloidosis," secondary,"" familial," and" primary"(in addition to rare forms of amyloidosis localized to a single organ). Thus, deposits of amyloid material in the kidney, liver, and spleen in association with chronic inflammatory processes such as tuberculosis and rheumatoid arthritis were termed" secondary amyloidosis." Familial amyloidosis was recognized by its distinctive clinical manifestations and the positive family history. All other types of amyloidosis, except that associated with the neoplasm multiple myeloma, were termed" primary," in the sense of" idiopathic"; this category included unrecognized inherited forms," secondary" amyloidosis without an identified cause, and localized amyloidoses. The failure of many instances of amyloid deposition to fit neatly into the prescribed clinical and histologic