A Case of Familial Amyloid Polyneuropathy due to Phe33Val TTR with Vitreous Involvement as the Initial Manifestation
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概要
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We report a 61-year-old Japanese woman with transthyretin (TTR) Val33-related familial amyloid polyneuropathy (FAP). She presented with late-onset, vitreous involvement as the initial manifestation, slow development of polyneuropathy, cardiomyopathy, and severe autonomic failure without carpal tunnel syndrome. Liver transplantation was performed and her postoperative course was stable. Taken together with previous reports, vitreous opacities seem to be common to Val33 FAP. Vitreous amyloidosis is usually seen in combination with the involvement of other visceral organs. The findings in the present case emphasize that vitreous opacities could be the first manifestation of FAP.
著者
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NARAI HISASHI
Department of Neurology, Graduate School of Medicine and Dentistry, Okayama University
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OMORI Nobuhiko
Department of Neurology, National Hospital Organization Okayama Medical Center
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Ueda Mitsuharu
Department Of Diagnostic Medicine Graduate School Of Medical And Pharmaceutical Sciences Kumamoto Un
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Ando Yukio
Department Of Diagnostic Medicine Graduate School Of Life Sciences Kumamoto University
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Abe Koji
Department Of Applied Chemistry Graduate School Of Engineering Tohoku University
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Manabe Yasuhiro
Department Of Neurology Graduate School Of Medicine And Dentistry Okayama Univeristy
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Tanaka Tomotaka
Department of Neurology, National Hospital Organization Okayama Medical Center
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Kono Syoichiro
Department of Neurology, National Hospital Organization Okayama Medical Center
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Fujii Daiki
Department of Neurology, National Hospital Organization Okayama Medical Center
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Narai Hisashi
Department of Neurology, National Hospital Organization Okayama Medical Center
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Sakai Yasuko
Department of Neurology, National Hospital Organization Okayama Medical Center
関連論文
- FAP is a Candidate Disease in Patients with Undetermined Polyneuropathy
- Transthyretin-related familial amyloidotic polyneuropathy—Progress in Kumamoto, Japan (1967–2010)—
- A Case of Familial Amyloid Polyneuropathy due to Phe33Val TTR with Vitreous Involvement as the Initial Manifestation
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