Effectiveness of Oral Iron Chelator Treatment with Deferasirox in an Aceruloplasminemia Patient with a Novel Ceruloplasmin Gene Mutation
スポンサーリンク
概要
- 論文の詳細を見る
A 59-year-old man presented with refractory anemia, choreoathetosis in the left upper extremity, an unsteady gait and cognitive dysfunction. The laboratory findings showed a marked decrease in ceruloplasmin. Magnetic resonance images revealed iron deposition in the brain and visceral organs. Iron accumulation was also observed in hepatocytes. Genetic analyses of the ceruloplasmin gene revealed a novel homozygous mutation of c.2185 delC in exon 12. The oral chelator deferasirox was effective in treating the left-side choreoathetosis and unsteady gait. Providing early treatment using deferasirox may be useful for preventing the progression of symptomatic neurological dysfunction.
- 社団法人 日本内科学会の論文
著者
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Aburakawa Yoko
Department Of Cardiology Asahikawa Medical University
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Kuroda Kenji
Department Of Fermentation Technology Faculty Of Engineering Hiroshima University
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Miyajima Hiroaki
The First Department Of Medicine Hamamatsu University School Of Medicine
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Kono Satoshi
The First Department Of Medicine Hamamatsu University School Of Medicine
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Suzuki Yasuhiro
Department Of Breast And Endocrine Surgery Tokai University School Of Medicine
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Yoshida Kosuke
Department Of Primary Care And Emergency Medicine Kyoto University Hospital
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KIMURA Takashi
Department of Cardiovascular, Respiratory and Metabolic Medicine Graduate School of Medicine, Kagoshima University
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Yahara Osamu
Department of Neurology, Asahikawa Medical Center, Japan
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Terada Tatsuhiro
The First Department of Medicine, Department of Neurology, Hamamatsu University School of Medicine, Japan
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Terada Tatsuhiro
The First Department of Medicine, Hamamatsu University School of Medicine, Japan
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Kuroda Kenji
Department of Neurology, Asahikawa Medical Center, Japan
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Miyajima Hiroaki
The First Department of Medicine, Hamamatsu University School of Medicine, Japan
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Aburakawa Yoko
Department of Neurology, Asahikawa Medical Center, Japan
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Yoshida Kosuke
Department of Neurology, Asahikawa Medical Center, Japan
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