Matsushima Masaaki, Yabe Ichiro, Tsuda Masaya, Sakakibara Mamoru, Shimamura Tsuyoshi, Sasaki Hidenao
Department of Neurology, Hokkaido University Graduate School of Medicine, Japan.
Department of Cardiology, Hokkaido University Graduate School of Medicine, Japan.
Intern Med. 2017 Dec 1;56(23):3231-3235. doi: 10.2169/internalmedicine.8434-16. Epub 2017 Sep 25.
A 54-year-old man with polycystic liver disease received a domino liver transplantation (DLT) from a patient of hereditary ATTR amyloidosis with the transthyretin Ser50Arg mutation. Ten years after transplantation, he felt a slight numbness in his toes, and cardiac amyloidosis was simultaneously suspected upon a heart function evaluation. Biopsy specimens from the myocardium revealed transthyretin amyloidosis with the Ser50Arg mutation. Oral tafamidis therapy has inhibited the progression of neurological and cardiovascular symptoms this far. We herein report this first case of amyloid polyneuropathy and myocardial amyloidosis after DLT from hereditary ATTR amyloidosis with a transthyretin Ser50Arg mutation and discuss similar cases of other mutations.
一名患有多囊肝病的54岁男性接受了来自一名患有遗传性转甲状腺素蛋白淀粉样变性（Transthyretin，TTR）Ser50Arg突变患者的多米诺肝移植（DLT）。移植后十年，他感到脚趾轻微麻木，心脏功能评估时同时怀疑有心脏淀粉样变性。心肌活检标本显示为带有Ser50Arg突变的转甲状腺素蛋白淀粉样变性。到目前为止，口服tafamidis治疗已抑制了神经和心血管症状的进展。我们在此报告首例来自患有转甲状腺素蛋白Ser50Arg突变的遗传性ATTR淀粉样变性患者的DLT术后淀粉样多神经病和心肌淀粉样变性病例，并讨论其他突变的类似病例。
