Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders
スポンサーリンク
概要
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Iron overload syndromes include a wide spectrum of genetic and acquired conditions. Recent studies suggest suppressed hepcidin synthesis in the liver to be the molecular basis of hemochromatosis. However, a liver with acquired iron overload synthesizes an adequate amount of hepcidin. Thus, hepcidin could function as a biochemical marker for differential diagnosis of iron overload syndromes. Methods We measured serum iron parameters and hepcidin- 25 levels followed by sequencing HFE, HJV, HAMP, TFR2, and SLC40A1 genes in 13 Japanese patients with iron overload syndromes. In addition, we performed direct measurement of serum hepcidin-25 levels using liquid chromatography-tandem mass spectrometry in 3 Japanese patients with aceruloplasminemia and 4 Italians with HFE hemochromatosis. Results One patient with HJV hemochromatosis, 2 with TFR2 hemochromatosis, and 3 with ferroportin disease were found among the 13 Japanese patients. The remaining 7 Japanese patients showed no evidence for genetic basis of iron overload syndrome. As far as the serum hepcidin-25 was concerned, seven patients with hemochromatosis and 3 with aceruloplasminemia showed markedly decreased serum hepcidin-25 levels. In contrast, 3 patients with ferroportin disease and 7 with secondary iron overload syndromes showed serum hepcidin levels parallel to their hyperferritinemia. Patients with iron overload syndromes were divided into 2 phenotypes presenting as low and high hepcidinemia. These were then associated with their genotypes. Conclusion Determining serum hepcidin-25 levels may aid differential diagnosis of iron overload syndromes prior to genetic analysis. © Springer 2010.
- Springerの論文
- 2010-11-01
著者
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TOMOSUGI Naohisa
Division of Advanced Medicine, Medical Research Institute, Kanazawa Medical University
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TATSUMI Yasuaki
Department of Pharmacology and Pharmaceutics, Graduate School of Natural Science and Technology, Kan
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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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Ohno Tomoyoshi
Department Of Gastroenterology Social Insurance Chukyo Hospital
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Ohno Tomoyoshi
社会保険中京病院 消化器科
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Yamagishi Masakazu
Department of Cardiology, National Cardiovascular Center
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OHNO Tomoyoshi
Nagoya City University School of Medicine
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HAYASHI HISAO
Department of Medicine, Faculty of Pharmaceutical Sciences, Hokuriku University
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Yoshioka K
Nagoya Univ. School Of Medicine
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Yoshioka Kentaro
名古屋大学 医学部第3内科学
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Yoshioka Kentaro
Division Of Liver Biliary Tract And Pancreas Diseases Department Of Internal Medicine Fujita Health
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Yoshioka Kentaro
Department Of Hepato-biliary-pancreas Fujita Health Science
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Okanoue T
Division Of Gastroenterology Saiseikai Suita Hospital
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Okanoue Takeshi
愛生会山科病院 内科
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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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Yamanouchi Kunio
稲沢市民病院
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Ikeda Takaaki
Department of Internal Medicine, Yokosuka Kyousai Hospital
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OKADA Toshihide
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
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OKANOUE Takeshi
Saiseikai Suita Hospital
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Okanoue Takeshi
Yosanoumi Hospital
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Hisai Hiroyuki
Department Of Molecular Medicine Sapporo Medical University
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Ikeda Takaaki
Department Of Internal Medicine Yokosuka Kyosai General Hospital
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Kakiuchi Yoshimi
Department Of Hepato-biliary-pancreas Fujita Health Science
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Yoshioka Kentaro
The Third Department Of Iinternal Medicine Nagoya University School Of Medicine
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HATTORI Ai
Department of Medicine, Aichi Gakuin University School of Pharmacy
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WAKUSAWA Shinya
Medical Laboratory Sciences, Nagoya University Graduate School of Medicine
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Tatsumi Yasuaki
Department Of Legal Medicine Kanazawa University School Of Medicine
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Tatsumi Yasuaki
Department Of Medicine Aichi Gakuin University School Of Pharmacy
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Kakiuchi Yoshimi
Department Of Gastroenterology And Hepatology Osaka University Graduate School Of Medicine
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Tomosugi Naohisa
Division Of Advanced Medicine Medical Research Institute Kanazawa Medical University
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Hayashi Hisao
Department Of Medicine Faculty Of Pharmaceutical Sciences Hokuriku University
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Hattori Ai
Department Of Medicine Aichi Gakuin University School Of Pharmacy
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Yoshioka Kentaro
Third Department Of Internal Medicine Nagoya University School Of Medicine
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Yoshioka Kentaro
Third Department Internal Medicine Nagoya University School Of Medicine
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Katano Yoshiaki
Second Department Of Internal Medicine Nagoya University School Of Medicine
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Ota Yusuke
Department Of Rheumatology National Minami-okayama Hospital
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Ota Yusuke
Department Of Mechano-aerospace Tokyo Institute Of Technology
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Okada Toshihide
Department Of Internal Medicine Graduate School Of Medicine Kanazawa University
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Katano Yoshiaki
Department Of Gastroenterology Nagoya University School Of Medicine
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Ota Yusuke
Department Of Rheumatology Minami-okayama Medical Center
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Yamagishi Masakazu
Department Of Internal Medicine Graduate School Of Medicine Kanazawa University
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KANEKO Yoshibumi
Department of Internal Medicine, Graduate School of Medicine, Kanazawa University
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MIYAJIMA Hiroaki
First Department of Medicine, Hamamatsu University School of Medicine
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PIPERNO Alberto
Department of Clinical Medicine and Prevention, University of Milano-Bicocca
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MOROTOMI Natsuko
Department of Internal Medicine, Kitakyushu Municipal Moji Hospital
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TSUCHIDA Ken-ichi
Department of Internal Medicine, Manda Memorial Hospital
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ISHIKAWA Akihisa
Department of Gastroenterology, Hitachi General Hospital
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KONO Satoshi
First Department of Medicine, Hamamatsu University School of Medicine
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PELUCCHI Sara
Department of Clinical Medicine and Prevention, University of Milano-Bicocca
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Oka Takahiro
Department Of Organ Transplant And Endoclinological Surgery Kyoto Prefectural University Of Medicine
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Kono Satoshi
First Department Of Medicine Hamamatsu University School Of Medicine
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Ikeda Takaaki
Department Of Internal Medicine Yokosuka Kyousai Hospital
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Tsuchida Ken-ichi
Department Of Internal Medicine Manda Memorial Hospital
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Pelucchi Sara
Department Of Clinical Medicine And Prevention University Of Milano-bicocca
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Miyajima Hiroaki
First Department Of Medicine Hamamatsu University School Of Medicine
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Piperno Alberto
Department Of Clinical Medicine And Prevention University Of Milano-bicocca
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Morotomi Natsuko
Department Of Internal Medicine Kitakyushu Municipal Moji Hospital
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Okada Toshihide
Department Of Gastroenterology And Hepatology Saiseikai Suita Hospital
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Yoshioka Kentaro
Department Of Gastroenterology Nagoya University School Of Medicine
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Ishikawa Akihisa
Department Of Gastroenterology Hitachi General Hospital
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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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Hyogo Hideyuki
Department Of Medicine And Molecular Sciences Graduate School Of Biomedical Sciences Hiroshima University
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TOMOSUGI Naohisa
Division of Nephrology, Department of Internal Medicine, Kanazawa Medical University
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Ikeda Takaaki
Department of Electronic and Information Engineering, Toyohashi University of Technology, Toyohashi, Aichi 441-8580, Japan
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Yamagishi Masakazu
Department of Advanced Electron Devices, The Institute of Scientific and Industrial Research (ISIR), Osaka University, Ibaraki, Osaka 567-0047, Japan
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Yoshioka Kentaro
Department of Electronics and Electrical Engineering, Keio University
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Hattori Ai
Department of Cardiology, Faculty of Medicine, University of Tsukuba
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YAMAGISHI Masakazu
Department of Advanced Electron Devices, The Institute of Scientific and Industrial Research (ISIR), Osaka University
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