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論文
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Takayama, Teruhiko ; Aburano, Tamio ; Shuke, Noriyuki ; Yokoyama, Kunihiko ; Michigishi, Takatoshi ; Sun, Bao-Fu ; Tonami, Norihisa ; Hisada, Kinichi ; Takabatake, Toshikazu ; Ohta, Hiromichi ; Tomosugi, Naohisa ; Kobayashi, Kenichi
概要:
金沢大学大学院医学系研究科
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論文 |
論文
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Kaneko, Yoshibumi ; Miyajima, Hiroaki ; Piperno, Alberto ; Tomosugi, Naohisa ; Hayashi, Hisao ; Morotomi, Natsuko ; Tsuchida, Ken-ichi ; Ikeda, Takaaki ; Ishikawa, Akihisa ; Ota, Yusuke ; Wakusawa, Shinya ; Yoshioka, Kentaro ; Kono, Satoshi ; Pelucchi, Sara ; Hattori, Ai ; Tatsumi, Yasuaki ; Okada, Toshihide ; Yamagishi, Masakazu
概要:
石川県立中央病院<br />金沢大学医薬保健研究域医学系<br />Iron overload syndromes include a wide spectrum of genetic and acquired conditions. Re
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cent 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.
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