Benson Merrill D
Department of Pathology, Indiana University School of Medicine, Indianapolis 46202-5126, USA.
Amyloid. 2005 Jun;12(2):75-87. doi: 10.1080/13506120500106925.
Mutations in a number of plasma proteins, including transthyretin, apolipoprotein AI, fibrinogen Aalpha-chain, lysozyme, and apolipoprotein AII, are associated with hereditary systemic amyloidosis. Transthyretin amyloidosis 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 non-neuropathic 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.
多种血浆蛋白的突变与遗传性全身性淀粉样变性有关，这些蛋白包括甲状腺素运载蛋白、载脂蛋白AI、纤维蛋白原α链、溶菌酶和载脂蛋白AII。甲状腺素运载蛋白淀粉样变性最为常见，通常与周围神经病变相关。其他蛋白的突变通常不会导致神经病变，而是主要引起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，且仅在部分患有该疾病的家族中出现。本综述关注的是非神经病变性遗传性全身性淀粉样变性。它力求呈现当今对这些疾病的认识概要，包括每种前体蛋白及其突变的各个特征、疾病的临床表型，以及在可行时的治疗建议。主要目的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，增强医生以及随后患者对每种疾病的了解，最后强调需要进行更多研究以找到治疗或预防这些疾病的方法。
