Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP‐met30)
Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP‐met30)
复制标题
肝移植对两名瑞典家族性淀粉样多发性神经病 (FAP-met30) 患者的生化影响
作者：
G. Holmgren;L. Steen;J. Ekstedt;C. Groth;B. Ericzon;S. Eriksson;O. Andersen;I. Karlberg;G. Nordén;M. Nakazato;P. Hawkins;S. Richardson;M. Pepys
家族性淀粉样变性多发性神经病（FAP）是一种常染色体显性遗传性疾病，其特征是进行性周围神经和自主神经病变，与神经和系统性淀粉样蛋白沉积相关。淀粉样原纤维含有变体运甲状腺素蛋白 (TTR) 分子 (TTR met30)，其中 90% 以上是在肝脏中产生的。两名症状严重的 FAP 患者进行肝移植后，循环中仅检测到正常的 TTR。这两名患者正在定期接受监测，尽管一名患者在 6 个月时没有证据表明淀粉样蛋白数量减少，但神经病变没有进一步进展。
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.
DOI：
10.1016/s0021-9258(17)39100-7
发表时间：
1985-09
期刊：
The Journal of biological chemistry
影响因子：
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作者：
D. Soprano;J. Herbert;K. Soprano;E. Schon;D. Goodman
通讯作者：
D. Soprano;J. Herbert;K. Soprano;E. Schon;D. Goodman