| Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders. | |
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MedLine Citation:
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PMID: 20533066 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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BACKGROUND: 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. |
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Authors:
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Yoshibumi Kaneko; Hiroaki Miyajima; Alberto Piperno; Naohisa Tomosugi; Hisao Hayashi; Natsuko Morotomi; Ken-ichi Tsuchida; Takaaki Ikeda; Akihisa Ishikawa; Yusuke Ota; Shinya Wakusawa; Kentaro Yoshioka; Satoshi Kono; Sara Pelucchi; Ai Hattori; Yasuaki Tatsumi; Toshihide Okada; Masakazu Yamagishi |
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Publication Detail:
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Type: Journal Article Date: 2010-06-09 |
Journal Detail:
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Title: Journal of gastroenterology Volume: 45 ISSN: 1435-5922 ISO Abbreviation: J. Gastroenterol. Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-11-12 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9430794 Medline TA: J Gastroenterol Country: Japan |
Other Details:
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Languages: eng Pagination: 1163-71 Citation Subset: IM |
Affiliation:
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Department of Internal Medicine, Graduate School of Medicine, Kanazawa University, Kanazawa, Ishikawa, Japan. mdyoshi@arion.ocn.ne.jp |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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