转甲状腺素蛋白淀粉样变性心肌病研究进展

Transthyretin Amyloidosis Cardiomyopathy

遗传性转甲状腺素蛋白淀粉样变性心肌病是由编码转甲状腺素蛋白的基因突变引起的,其诱导转甲状腺素蛋白错误折叠和淀粉样蛋白原纤维进行性心肌积聚。渐进性淀粉样蛋白积聚导致多器官功能障碍和死亡,心肌累及通常提示预后不良,因为诊疗方式的局限性,诊断和治疗较困难。现就其发病机制、临床表现及特异性治疗研究近况综述如下。

Hereditary transthyretin amyloidosis cardiomyopathy is caused by a mutation in a gene encoding transthyretin,which induces transthyretin misfolding and progressive myocardial accumulation of amyloid fibrils.Progressive amyloid accumulation leads to multiple organ dysfunction and death.Myocardial involvement usually indicates the poor prognosis.Due to the limitations of diagnosis and treatment methods,diagnosis and treatment are difficult.Now,the recent research on pathogenesis,clinical manifestations and specific treatments is reviewed as follows.