Ikeda Shu-ichi, Nakazato Masamitsu, Ando Yukio, Sobue Gen
Third Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
Neurology. 2002 Apr 9;58(7):1001-7. doi: 10.1212/wnl.58.7.1001.
Familial amyloid polyneuropathy (FAP) was once considered a disease peculiar to endemic areas, but it is now recognized not to be a rare disease among hereditary neuropathic disorders in Japan. FAP in Japan, the majority of which is caused by transthyretin (TTR)-related amyloid deposition, shows a wide spectrum of clinical pictures. This variability can be explained on the basis of the many causative gene mutations of TTR, but even in the same TTR type of FAP, the clinical phenotypes seem to vary in different kindreds or individuals. Especially in the case of the Val30Met TTR type, the sex ratio and the age at onset are considerably different between patients in endemic foci and those in nonendemic areas. It is also noteworthy that serious cardiac amyloidosis is commonly seen in patients with FAP of the non-Val30Met TTR type. In addition to TTR gene mutation, unknown factors may play an important role in the development of FAP. At present, liver transplantation is the only life-saving treatment, but this therapy is always associated with great stress for the patient and the donor, particularly in living-related transplantation. Less invasive treatments for this disease are required.
家族性淀粉样多神经病（FAP）曾被认为是一种地方病特有的疾病，但现在人们认识到它在日本遗传性神经病变疾病中并非罕见病。在日本，FAP多数由转甲状腺素蛋白（TTR）相关的淀粉样沉积引起，表现出广泛的临床症状。这种变异性可以基于TTR的许多致病基因突变来解释，但即使在相同TTR类型的FAP中，临床表型在不同家族或个体中似乎也有所不同。特别是在Val30Met TTR类型的情况下，地方病病灶患者与非地方病地区患者的性别比例和发病年龄有很大差异。同样值得注意的是，非Val30Met TTR类型的FAP患者中常见严重的心脏淀粉样变性。除了TTR基因突变外，未知因素可能在FAP的发生发展中起重要作用。目前，肝移植是唯一的救命治疗方法，但这种治疗对患者和供体总是带来巨大压力，尤其是在活体亲属移植中。需要针对这种疾病的侵入性较小的治疗方法。
