@article{oai:kanazawa-u.repo.nii.ac.jp:00014560,
 author = {Kaneko, Yoshibumi and Miyajima, Hiroaki and Piperno, Alberto and Tomosugi, Naohisa and Hayashi, Hisao and Morotomi, Natsuko and Tsuchida, Ken-ichi and Ikeda, Takaaki and Ishikawa, Akihisa and Ota, Yusuke and Wakusawa, Shinya and Yoshioka, Kentaro and Kono, Satoshi and Pelucchi, Sara and Hattori, Ai and Tatsumi, Yasuaki and Okada, Toshihide and Yamagishi, Masakazu},
 issue = {11},
 journal = {Journal of Gastroenterology},
 month = {Nov},
 note = {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., 石川県立中央病院, 金沢大学医薬保健研究域医学系},
 pages = {1163--1171},
 title = {Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders},
 volume = {45},
 year = {2010}
}