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在遗传性血色素沉着症中,炎症可增加铁调素水平。

Inflammation can increase hepcidin in -hereditary hemochromatosis.

作者信息

Moris Wenke, Verhaegh Pauline L M, Masclee Ad A M, Swinkels Dorine W, Laarakkers Coby M, Koek Ger H, van Deursen Cees Th B M

机构信息

Department of Internal Medicine, Gastroenterology and Clinical Geriatrics Zuyderland Medical Center Sittard-Geleen The Netherlands.

Division of Gastroenterology and Hepatology Department of Internal Medicine Maastricht University Medical Centre Maastricht The Netherlands.

出版信息

Clin Case Rep. 2021 May 20;9(5):e04114. doi: 10.1002/ccr3.4114. eCollection 2021 May.

Abstract

We present a p.C282Y homozygous patient with high hepcidin levels and normal iron parameters during systemic inflammation. This suggests that in the absence of a proper functioning HFE, resulting in blockage of the BMP/SMAD pathway, the innate low hepcidin concentration can be upregulated by inflammation, probably via the JAK/STAT3 pathway.

摘要

我们报告了一名患有p.C282Y纯合突变的患者,其在全身炎症期间铁调素水平升高而铁参数正常。这表明,在缺乏正常功能的HFE导致BMP/SMAD信号通路受阻的情况下,先天性低铁调素浓度可能通过JAK/STAT3信号通路被炎症上调。

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