期刊
INTERNAL MEDICINE
卷 56, 期 23, 页码 3231-3235出版社
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.8434-16
关键词
amyloid polyneuropathy; myocardial amyloidosis; domino liver transplantation; transthyretin; tafamidis
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.
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