A Japanese Family with Ferroportin Disease Caused by a Novel Mutation of SLC40A1 Gene: Hyperferritinemia Associated with a Relatively Low Transferrin Saturation of Iron
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概要
- 論文の詳細を見る
Ferroportin disease, autosomal-dominant reticuloendothelial iron overload, may be more prevalent than hemochromatosis in Japan. Hyperferritinemia of 822 ng/ml with 24.8% transferrin saturation of iron was incidentally noted in a 43-year-old man. His iron overload was selective in Kupffer cells of the liver. Subsequently, his father was found to have asymptomatic hyperferritinemia of 2,283 ng/ml with 62.1% saturation. These affected subjects were heterozygous for 1467A>C (R489S) in SLC40A1, and without other mutations of the hemochromatosis genes. Here, we report a Japanese family with ferroportin disease, characterized by hyperferritinemia with relatively low transferrin saturations of iron.
- 社団法人 日本内科学会の論文
著者
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Okazaki Toru
Department of Medicine 2 Kansai Medical University
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Hisai H
Department Of Medicine Aichi Gakuin University School Of Pharmacy
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Hashimoto Hiroaki
済生会吹田病院
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SAITO HIROSHI
Department of Neurology, Tohoku University School of Medicine
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HAYASHI HISAO
Department of Medicine, Faculty of Pharmaceutical Sciences, Hokuriku University
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WAKUSAWA SHINYA
Department of Medicine, Faculty of Pharmaceutical Sciences, Hokuriku University
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Hayashi Hisao
愛知学院大学 薬学部薬物治療学
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Wakusawa S
Medical Laboratory Sciences Nagoya University Graduate School Of Medicine
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Wakusawa Shinya
愛知学院大学 薬学部薬物治療学
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Wakusawa Shinya
Department Of Medical Technology Nagoya University School Of Health Sciences
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Wakusawa Shinya
Faculty Of Pharmaceutical Sciences Hokuriku University
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Hoshino Hiromi
Department Of Gastroenterology And Hepatology Kyoto Prefectural University Of Medicine
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SUZUKI Rie
Department of Environmental Health, School of Medicine University of Occupational and Environmental
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YANO Motoyoshi
Division of Gastroenterology of Department of Internal Medicine, Nagoya University Graduate School o
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Koyama Chizu
Department of Medicine, Faculty of Pharmaceutical Sciences of Hokuriku University, Kanazawa
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UENO Toshio
Department of Medicine, Asanogawa General Hospital, Kanazawa
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Hayashi Hisao
Department Of Medicine Faculty Of Pharmaceutical Sciences Hokuriku University
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Suzuki Rie
Department Of Dermatology Fujita Health University School Of Medicine
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Ueno Toshio
Department Of Applied Chemistry Nagoya Institute Of Technology
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Okazaki Toru
Department Of Gastroenterology And Hepatology Saiseikai Suita Hospital
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Saito Hiroshi
Department Of Cardiovascular Medicine Osaka University Graduate School Of Medicine
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Suzuki Rie
Department Of Applied Microbiology Hoshi University
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Hayashi Hisao
Department Of Medicine And Molecular Sciences Graduate School Of Biomedical Sciences Hiroshima University
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Hayashi Hisao
Department Of Medicine Aichi Gakuin University School Of Pharmacy
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OKAZAKI Toru
Department of Internal Medicine, Tsu National Hospital, Hisai
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Saito Hiroshi
Department of Applied Chemistry, Graduate School of Engineering, Tohoku University
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YANO Motoyoshi
Division of Gastroenterology, the Department of Internal Medicine, Nagoya University Graduate School of Medicine
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