Art

J-GLOBAL ID：201702250743401375   Reference number：17A0440608

An Isolated Case of Late-onset Amyloidogenic Transthyretin Type Familial Amyloid Polyneuropathy Associated with a Mutant Transthyretin Substituting Methionine for Valine at Position 30 Showing Latent Progressive Cardiac Involvement Confirmed by Serial Annual Electrocardiograms

通年心電図で確認された潜在的進行性心臓関与を示す30位メチオニンがバリンに置換された突然変異トランスサイレチンと関連させた遅発性アミロイド形成性トランスサイレチン型家族性アミロイドポリニューロパチーの単離症例

Author (12)： Sato Chikako (Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan) ,  Takaya Tomofumi (Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan) ,  Mori Shumpei (Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan) ,  Hasegawa Kohei (Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan) ,  Soga Fumitaka (Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan) ,  Tanaka Hidekazu (Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan) ,  Watanabe Yoshiaki (Department of Radiology, Kobe University Graduate School of Medicine, Japan) ,  Nishii Tatsuya (Department of Radiology, Kobe University Graduate School of Medicine, Japan) ,  Kono Atsushi K. (Department of Radiology, Kobe University Graduate School of Medicine, Japan) ,  Morinaga Yukiko (Department of Diagnostic Pathology, Kobe University Graduate School of Medicine, Japan) ,  Ishibashi-Ueda Hatsue (Department of Clinical Pathology, National Cerebral and Cardiovascular Center, Japan) ,  Hirata Ken-ichi (Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan)
Material： Internal Medicine (Web)  (Intern Med (Web))
Volume： 56  Issue： 2  Page： 163-168(J-STAGE)  Publication year： 2017 
JST Material Number： U0033A  ISSN： 1349-7235  Document type： Article
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *Familial amyloid polyneuropathy

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Author keywords (6)： amyloidogenic transthyretin ,  cardiac amyloidosis ,  electrocardiogram ,  familial amyloid polyneuropathy ,  senile systemic amyloidosis ,  Val30Met

JST classification (2)： Cardiovascular system diseases  (GJ03000C) ,  Nervous system diseases  (GN03000O)

Reference (15)：

• 1. Misu K, Hattori N, Nagamatsu M, et al. Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Brain 122: 1951-1962, 1999.
• 2. Rapezzi C, Merlini G, Quarta CC, et al. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation 120: 1203-1212, 2009.
• 3. Takigawa M, Hashimura K, Ishibashi-Ueda H, et al. Annual electrocardiograms consistent with silent progression of cardiac involvement in sporadic familial amyloid polyneuropathy: a case report. Intern Med 49: 139-144, 2010.
• 4. Ikeda S. Cardiac amyloidosis: heterogenous pathogenic backgrounds. Intern Med 43: 1107-1114, 2004.
• 5. Takei Y, Hattori T, Tokuda T, et al. Senile systemic amyloidosis starting as bilateral carpal and left ulnar tunnel syndrome. Intern Med 42: 1050-1051, 2003.

Terms in the title (12)： 心電図 ,  心臓 ,  メチオニン ,  バリン ,  置換 ,  突然変異 ,  トランスサイレチン ,  遅発性 ,  アミロイド形成 ,  トランスサイレチン型家族性アミロイドポリニューロパチー ,  単離 ,  症例