Systemic but asymptomatic transthyretin amyloidosis 8 years after domino liver transplantation
Systemic but asymptomatic transthyretin amyloidosis 8 years after domino liver transplantation
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DOI：
10.1136/jnnp.2010.218958
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发表时间：
2011-11-01
影响因子：
11
通讯作者：
Sobue, Gen
中科院分区：
文献类型：
--
作者：
Koike, Haruki;Kiuchi, Tetsuya;Sobue, Gen
由于家族性淀粉样多发性神经病（FAP）是一种成人发病的疾病，预期多米诺肝移植（DLT）和FAP肝脏受体发生淀粉样变性之间有很长的时间。然而，随着时间的推移，越来越多的患者接受了DLT，患者的症状提示淀粉样变性已被报告。作者首次描述了FAP肝脏接受者尸检病例的病理学发现。一位患有原发性硬化性胆管炎的男性患者在30岁时接受了来自甲状腺素运载蛋白（TTR）Tyr114Cys突变的FAP患者的肝移植。虽然在34岁时发现原发性硬化性胆管炎复发，但他没有淀粉样变性的症状。他在38岁时死于伯基特淋巴瘤。TTR免疫反应性淀粉样蛋白存在于各种器官中，包括心脏、肺、胃肠道、胰腺、脾脏、生殖系统和骨骼肌。在神经系统中，TTR免疫反应性淀粉样蛋白沉积在交感神经节和正中神经内的腕管是明显的，而神经元或神经纤维的损失是不明显的。这种情况下允许淀粉样蛋白沉积的特点在无症状阶段的FAP。广泛的淀粉样蛋白沉积可能发生在这种疾病的组织损伤之前。
As familial amyloid polyneuropathy (FAP) is an adult-onset disease, a long period is expected between domino liver transplantation (DLT) and the occurrence of amyloidosis in recipients of a FAP liver. However, as time passes, and increased numbers of patients have undergone DLT, patients with symptoms suggesting amyloidosis have been reported. The authors describe, for the first time, pathological findings in an autopsy case of a recipient of a FAP liver. A male patient with primary sclerosing cholangitis received a liver graft from a FAP patient with the transthyretin (TTR) Tyr114Cys mutation when he was 30 years old. Although a recurrence of primary sclerosing cholangitis was detected at age 34, he had no symptoms indicating amyloidosis. He died from Burkitt's lymphoma at 38 years of age. TTR immunoreactive amyloid was found in various organs including the heart, lung, gastrointestinal tract, pancreas, spleen, reproductive system and skeletal muscles. In the nervous system, TTR immunoreactive amyloid deposition was obvious in the sympathetic ganglia and the median nerve within the carpal tunnel, while loss of neurons or nerve fibres was not apparent. This case allows for the characterisation of amyloid deposition during the asymptomatic stage of FAP. Widespread amyloid deposition may occur before tissue damage in this disease.