Holmgren G, Steen L, Ekstedt J, Groth C G, Ericzon B G, Eriksson S, Andersen O, Karlberg I, Nordén G, Nakazato M
Department of Clinical Genetics, University Hospital, Umeå, Sweden.
Clin Genet. 1991 Sep;40(3):242-6. doi: 10.1111/j.1399-0004.1991.tb03085.x.
Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant inherited disorder characterized by progressive peripheral and autonomic neuropathy, associated with neural and systemic amyloid deposits. The amyloid fibrils contain a variant transthyretin (TTR) molecule (TTR met30), over 90% of which is produced in the liver. After liver transplantation in two patients with severe symptomatic FAP, only normal TTR was detectable in circulation. The two patients are being monitored at regular intervals, and, although in one patient there was no evidence of reduction in the quantity of amyloid present at 6 months, there had been no further progression of the neuropathy.
家族性淀粉样多神经病（FAP）是一种常染色体显性遗传性疾病，其特征为进行性外周和自主神经病变，并伴有神经和全身淀粉样沉积物。淀粉样原纤维含有一种变异的转甲状腺素蛋白（TTR）分子（TTR met30），其中90%以上在肝脏中产生。两名患有严重症状性FAP的患者接受肝移植后，循环中仅可检测到正常的TTR。这两名患者正在接受定期监测，尽管其中一名患者在6个月时没有证据表明存在的淀粉样蛋白数量减少，但神经病变没有进一步进展。
