Thomas P K
J Med Genet. 1975 Dec;12(4):317-26. doi: 10.1136/jmg.12.4.317.
In the absence of biochemical distinctions, the nosography of the inherited amyloidoses must at present depend largely upon clinical subdivisions. In the broad classification adopted here, the disorders have for convenience been grouped according to the anatomical system that is predominantly affected. It is evident that the amyloid syndromes display considerable heterogeneity. However, they overlap. Thus in the Iowa type classified with the hereditary amyloid neuropathies (van Allen et al, 1969; Gimeno et al, 1974), renal involvement was frequent and was the usual cause of death. In the English (Zalin et al, 1974) and Scandinavian (Andersson, 1970) families with neuropathy as the predominant feature, cardiac involvement was a common finding. In certain of the conditions discussed, such as medullary carcinoma of the thyroid and Down's syndrome, amyloid deposition is merely an incidental aspect of the disorder. In those conditions in which generalized or localized amyloid deposition occupies a more central position in the clinical syndrome, an autosomal dominant inheritance has been established or suggested in the majority. An autosomal recessive inheritance has so far only been recognized in familial Mediterranean fever. In the family with hereditary amyloid heart diseases reported by Fredricksen et al (1962), the disorder was confined to a single sibship, raising the possibility of recessive inheritance. This could also be true in sporadic examples of primary amyloidosis. The dominantly inherited amyloidoses comprise a number of geographically widely scattered families with clinical pictures that do not show consistent differences between some families. The families that do not show consistent differences are not necessarily harbouring nutations at the same locus, or the same mutation at any particular locus. However, many of these dominantly inherited clinical syndromes are sufficiently different from each other and the clinical manifestations of each sufficiently consistent to indicate that separate main genes are likely to be involved...
在缺乏生化差异的情况下，遗传性淀粉样变性的疾病分类目前在很大程度上必须依赖于临床细分。在本文采用的广泛分类中，为方便起见，这些疾病已根据主要受影响的解剖系统进行了分组。显然，淀粉样变性综合征表现出相当大的异质性。然而，它们也存在重叠。因此，在归类于遗传性淀粉样变性神经病的爱荷华型（范·艾伦等人，1969年；希门诺等人，1974年）中，肾脏受累很常见，且是常见的死亡原因。在以神经病为主要特征的英国（扎林等人，1974年）和斯堪的纳维亚（安德森，1970年）家族中，心脏受累是常见表现。在某些所讨论的病症中，如甲状腺髓样癌和唐氏综合征，淀粉样沉积仅仅是该病症的一个偶然方面。在那些全身性或局限性淀粉样沉积在临床综合征中占据更核心位置的病症中，大多数已确定或提示为常染色体显性遗传。常染色体隐性遗传迄今仅在家族性地中海热中被确认。在弗雷德里克森等人（1962年）报道的遗传性淀粉样心脏病家族中，该病症局限于一个同胞家族，增加了隐性遗传的可能性。这在原发性淀粉样变性的散发病例中也可能是正确的。显性遗传的淀粉样变性包括一些在地理上广泛分布的家族，其临床症状在一些家族之间并无一致的差异。那些没有一致差异的家族不一定在同一基因座存在突变，或在任何特定基因座存在相同的突变。然而，这些显性遗传的临床综合征彼此之间差异足够大，且每种综合征的临床表现足够一致，表明可能涉及不同的主要基因……
