Ostertag revisited: The inherited systemic amyloidoses without neuropathy
Ostertag revisited: The inherited systemic amyloidoses without neuropathy
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DOI：
10.1080/13506120500106925
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发表时间：
2005-06-01
影响因子：
5.5
通讯作者：
Benson, MD
中科院分区：
文献类型：
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作者：
Benson, MD
许多血浆蛋白的突变，包括转甲状腺激素、载脂蛋白AI、纤维蛋白原Aα链、溶菌酶和载脂蛋白ALL，都与遗传性系统性淀粉样变性有关。甲状旁腺素淀粉样变性是最常见的，通常与周围神经病变有关。其他蛋白质的突变通常不会导致神经病理后果，相反，主要会导致肾脏和心脏淀粉样变性。只有载脂蛋白AI甘氨酸26精氨酸突变可能导致周围神经病变，然后只在这种疾病的部分家族中发生。本文就非神经性遗传性系统性淀粉样变性进行综述。它努力概述这些疾病的现代知识，包括每种前体蛋白的每种特征及其突变；疾病的临床表型；以及可行的治疗建议。主要目标是提高对这些常染色体显性疾病的认识，增加早期诊断的机会，增强医生和患者对每种疾病的了解，最后强调需要进行更多的研究，以找到治疗或预防这些疾病的方法。
Mutations in a number of plasma proteins, including transthyretin, apolipoprotein AI, fibrinogen A alpha-chain, lysozyme, and apolipoprotein All, are associated with hereditary systemic amyloiclosis. Transthyretin amyloiclosis is the most common and is usually associated with peripheral neuropathy. Mutations in the other proteins usually have no neuropathic consequences and, instead, cause principally renal and cardiac amyloidosis. Only the apolipoprotein AI glycine 26 arginine mutation may cause peripheral neuropathy and then in only some of the kindreds with this disease. This review is concerned with the nonneuropathic hereditary systemic amyloidoses. It strives to present a synopsis of the present day knowledge of these diseases including each feature of each precursor protein and its mutations; the clinical phenotype of the disease; and suggestions for treatment when feasible. The main objective is to increase awareness of these autosomal dominant diseases, enhance the chances of early diagnosis, enhance the physician's and subsequently the patient's knowledge of each disease, and finally emphasize the need for more research to find ways to treat or prevent these diseases.