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