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孤立性促肾上腺皮质激素缺乏症:高铁蛋白血症的罕见病因。

Isolated ACTH deficiency: an uncommon cause of hyperferritinaemia.

作者信息

Isoda Atsushi, Saito Akio, Matsumoto Morio, Sawamura Morio

机构信息

Department of Hematology, Iryo Hojin Hoshi Iin, Maebashi, Japan

Department of Hematology, NHO Shibukawa Medical Center, Shibukawa, Japan.

出版信息

BMJ Case Rep. 2023 Oct 10;16(10):e256049. doi: 10.1136/bcr-2023-256049.

DOI:10.1136/bcr-2023-256049
PMID:37816574
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10565305/
Abstract

Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disorder but not a known cause of hyperferritinaemia. We here report a man with IAD who presented with mild anaemia and unexpected hyperferritinaemia (serum ferritin, 1796 µg/L). He had high serum hepcidin and relatively low erythropoietin levels for his anaemia, with hepcidin and ferritin levels reducing with hydrocortisone supplementation. We speculate that low glucocorticoid levels might suppress erythropoiesis and anti-inflammatory activity, resulting in a higher hepcidin level and hyperferritinaemia. The possibility of adrenal insufficiency including IAD should be considered as a differential diagnosis in patients with unexplained hyperferritinaemia.

摘要

孤立性促肾上腺皮质激素缺乏症(IAD)是一种罕见疾病,但并非已知的高铁蛋白血症病因。我们在此报告一名患有IAD的男性,他表现为轻度贫血和意外的高铁蛋白血症(血清铁蛋白,1796µg/L)。对于他的贫血,其血清铁调素水平较高且促红细胞生成素水平相对较低,补充氢化可的松后铁调素和铁蛋白水平降低。我们推测低糖皮质激素水平可能会抑制红细胞生成和抗炎活性,导致铁调素水平升高和高铁蛋白血症。对于不明原因高铁蛋白血症的患者,应考虑包括IAD在内的肾上腺功能不全的可能性作为鉴别诊断。

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本文引用的文献

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Hyperferritinemia: causes and significance in a general hospital.高铁蛋白血症:综合医院中的病因及意义
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Glucocorticoids promote Von Hippel Lindau degradation and Hif-1α stabilization.糖皮质激素促进冯·希佩尔-林道降解和 HIF-1α 稳定。
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Delayed diagnosis of adrenal insufficiency is common: a cross-sectional study in 216 patients.肾上腺功能不全的延迟诊断很常见:216 例患者的横断面研究。
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Regulation of iron homeostasis in anemia of chronic disease and iron deficiency anemia: diagnostic and therapeutic implications.慢性病贫血和缺铁性贫血中铁稳态的调节:诊断和治疗意义
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The effect of endocrinopathies on the blood.内分泌疾病对血液的影响。
Blood. 1948 Dec;3(12):1342-66.