Progression of cardiomyopathy and neuropathy after liver transplantation in a patient with familial amyloidotic polyneuropathy caused by tyrosine-77 transthyretin variant.
Progression of cardiomyopathy and neuropathy after liver transplantation in a patient with familial amyloidotic polyneuropathy caused by tyrosine-77 transthyretin variant.
复制标题
酪氨酸 77 运甲状腺素蛋白变异引起的家族性淀粉样多发性神经病患者肝移植后心肌病和神经病的进展。
DOI：
10.1002/lt.500050309
复制
发表时间：
1999
期刊：
影响因子：
--
通讯作者：
J. Berenguer
中科院分区：
文献类型：
--
作者：
A. García;M. Prieto;S. Pascual;M. Berenguer;B. López;J. Mir;Juan Jes Vilchez;J. Berenguer
家族性淀粉样多发性神经病是一种遗传性淀粉样变性，与一种名为转甲状腺素的蛋白质的突变形式有关。蛋氨酸-30变异是观察到的最常见的突变。这种疾病是由于这种蛋白质以淀粉样蛋白的形式沉积在几个器官中引起的，如心脏、肾脏和周围神经系统。这种疾病总是进行性和致命性的，患者在症状出现后7到10年内死亡。肝移植是目前这些患者的唯一选择，因为它可以改善大多数患者的症状和/或阻止疾病的进展。我们报告一位病人在肝移植后表现出明显的心肌病和神经病变的进展。
Familial amyloidotic polyneuropathy is an inherited form of amyloidosis associated with a mutant form of a protein called transthyretin. The Methionine-30 variant is the most frequent mutation observed. This disorder is caused by deposition of this protein as amyloid in several organs, such as the heart, kidneys, and peripheral nervous system. The disease is always progressive and fatal, and patients die 7 to 10 years after the onset of symptoms. Liver transplantation is at present the only choice for these patients because it provides improvement of symptoms and/or stops progression of the disease in most patients. We report the case of a patient who showed clear progression of cardiomyopathy and neuropathy after liver transplantation.
葡萄牙型家族性淀粉样变性多发性神经病的生化标志物。
DOI：
10.1172/jci112224
发表时间：
1985
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Saraiva,MJ;Costa,PP;Goodman,DS
通讯作者：
Goodman,DS