Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders

フォーマット:

論文

責任表示:

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

言語:

英語

出版情報:

Springer, 2010-11-01

著者名:

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

続きを見る

掲載情報:

Journal of Gastroenterology

ISSN:

0944-1174      

巻:

45

通号:

11

開始ページ:

1163

終了ページ:

1171

バージョン:

author

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. 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. 続きを見る

URL:

http://hdl.handle.net/2297/26279