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.
Kaneko, Y., Miyajima, H., Piperno, A., Tomosugi, N., Hayashi, H., Morotomi, N., et al. (2010). Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders. JOURNAL OF GASTROENTEROLOGY, 15(11), 1163-1171.
|Citazione:||Kaneko, Y., Miyajima, H., Piperno, A., Tomosugi, N., Hayashi, H., Morotomi, N., et al. (2010). Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders. JOURNAL OF GASTROENTEROLOGY, 15(11), 1163-1171.|
|Tipo:||Articolo in rivista - Articolo scientifico|
|Carattere della pubblicazione:||Scientifica|
|Titolo:||Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders|
|Autori:||Kaneko, Y; Miyajima, H; Piperno, A; Tomosugi, N; Hayashi, H; Morotomi, N; Tsuchida, K; Ikeda, T; Ishikawa, A; Ota, Y; Wakusawa, S; Yoshioka, K; Kono, S; Pelucchi, S; Hattori, A; Tatsumi, Y; Okada, T; Yamagishi, M|
|Data di pubblicazione:||nov-2010|
|Rivista:||JOURNAL OF GASTROENTEROLOGY|
|Appare nelle tipologie:||01 - Articolo su rivista|