Late-onset Transthyretin (TTR)-familial Amyloid Polyneuropathy (FAP) with a Long Disease Duration from Non-endemic Areas in Japan
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- Miyake Zenshi
- Department of Neurology, University of Tsukuba Hospital, Japan
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- Nakamagoe Kiyotaka
- Department of Neurology, Faculty of Medicine, University of Tsukuba, Japan
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- Ezawa Naoki
- Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
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- Yoshinaga Tsuneaki
- Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
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- Hashimoto Ryosuke
- Department of Pathology, University of Tsukuba Hospital, Japan
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- Sato Taiki
- Department of Diagnostic Pathology, Faculty of Medicine, University of Tsukuba, Japan
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- Sekijima Yoshiki
- Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
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- Tamaoka Akira
- Department of Neurology, Faculty of Medicine, University of Tsukuba, Japan
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抄録
<p>We herein report the case of an 84-year-old woman with transthyretin (TTR) Val30Met-associated familial amyloid polyneuropathy (FAP-ATTR Val30Met), representing a very old case. The patient had muscle weakness and sensory disturbances in her extremities caused by severe peripheral neuropathy. She also had vitreous opacity and orthostatic hypotension, and pyrophosphate scintigraphy showed a myocardial accumulation. Esophagogastroduodenoscopy revealed mucosal amyloid deposits, positive in anti-TTR antibody staining. A TTR gene analysis isolated the Val30Met mutation. More than a few cases of FAP-ATTR develop late, like our own, and their familial histories are often obscure in non-endemic areas, which might make a diagnosis difficult. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 58 (5), 713-718, 2019-03-01
一般社団法人 日本内科学会