• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

遗传性血色素沉着症:心脏方面的视角

Hereditary Hemochromatosis: A Cardiac Perspective.

作者信息

Joshi Pranay K, Patel Saawan C, Shreya Devarashetty, Zamora Diana I, Patel Gautami S, Grossmann Idan, Rodriguez Kevin, Soni Mridul, Sange Ibrahim

机构信息

Internal Medicine, B.J. Medical College, Ahmedabad, IND.

Internal Medicine, Pramukhswami Medical College, Karamsad, IND.

出版信息

Cureus. 2021 Nov 29;13(11):e20009. doi: 10.7759/cureus.20009. eCollection 2021 Nov.

DOI:10.7759/cureus.20009
PMID:34987900
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8716004/
Abstract

Hereditary hemochromatosis (HH) is a common genetic metabolic disorder characterized by excessive iron absorption and elevated serum iron levels, which accumulate in various organs, such as the heart, pancreas, gonads, and damage these organs. There are only a few articles and clinical studies describing the characteristics of cardiac involvement in HH along with the significance of early diagnosis and management in preventing complications. In this review article, we have reviewed multiple pieces of literature and gathered available information regarding the subject. We compiled the data to investigate the importance of early detection of symptoms, regular monitoring, and prompt management with strict adherence to reverse or prevent complications. This article has reviewed different aspects of cardiac hemochromatosis, such as pathogenesis, clinical presentation, diagnosis, and management. Recognition of early symptoms, diagnosis of cardiac involvement with various modalities, and implementation of early treatment are essentially the foundation of better outcomes in HH.

摘要

遗传性血色素沉着症(HH)是一种常见的遗传性代谢紊乱疾病,其特征是铁吸收过多和血清铁水平升高,这些铁会在心脏、胰腺、性腺等各种器官中蓄积,并损害这些器官。仅有少数文章和临床研究描述了HH中心脏受累的特征以及早期诊断和管理在预防并发症方面的意义。在这篇综述文章中,我们查阅了多篇文献并收集了有关该主题的可用信息。我们汇总数据以研究早期发现症状、定期监测以及严格坚持逆转或预防并发症的及时管理的重要性。本文综述了心脏血色素沉着症的不同方面,如发病机制、临床表现、诊断和管理。识别早期症状、采用各种方式诊断心脏受累以及实施早期治疗本质上是HH取得更好治疗效果的基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aba1/8716004/d890ad7486a3/cureus-0013-00000020009-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aba1/8716004/82d397d82186/cureus-0013-00000020009-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aba1/8716004/d890ad7486a3/cureus-0013-00000020009-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aba1/8716004/82d397d82186/cureus-0013-00000020009-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aba1/8716004/d890ad7486a3/cureus-0013-00000020009-i02.jpg

相似文献

1
Hereditary Hemochromatosis: A Cardiac Perspective.遗传性血色素沉着症:心脏方面的视角
Cureus. 2021 Nov 29;13(11):e20009. doi: 10.7759/cureus.20009. eCollection 2021 Nov.
2
Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis-The Cardiological Point of View.遗传性血色素沉着症的发病机制、诊断及临床意义——心脏病学视角
Diagnostics (Basel). 2021 Jul 16;11(7):1279. doi: 10.3390/diagnostics11071279.
3
Diagnostic difficulties of primary hemochromatosis in a patient with posthemorrhagic anemia.一名患有出血后贫血患者的原发性血色素沉着症的诊断困难
Ter Arkh. 2019 May 16;91(4):118-121. doi: 10.26442/00403660.2019.04.000170.
4
Hereditary hemochromatosis: pathogenesis and clinical features of a common disease.遗传性血色素沉着症:一种常见疾病的发病机制与临床特征
Am J Gastroenterol. 1989 Aug;84(8):851-62.
5
Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review.青少年血色素沉着症:两姐妹的风湿性表现对地拉罗司治疗有反应。病例系列及文献综述
Open Access Rheumatol. 2021 Jan 15;13:15-21. doi: 10.2147/OARRR.S276112. eCollection 2021.
6
Cardiovascular Manifestations of Hemochromatosis: A Review of Pathophysiology, Mechanisms, and Treatment Options.血色素沉着症的心血管表现:病理生理学、机制及治疗选择综述
Cardiol Rev. 2025;33(4):359-364. doi: 10.1097/CRD.0000000000000622. Epub 2023 Oct 26.
7
Hereditary hemochromatosis.遗传性血色素沉着症
Minerva Med. 2008 Dec;99(6):605-17.
8
Identification of Genes for Hereditary Hemochromatosis.遗传性血色素沉着症相关基因的鉴定
Methods Mol Biol. 2018;1706:353-365. doi: 10.1007/978-1-4939-7471-9_19.
9
Clinical consult: iron overload--hereditary hemochromatosis.临床会诊:铁过载——遗传性血色素沉着症
Prim Care. 2004 Sep;31(3):767-70, xii-xiii. doi: 10.1016/j.pop.2004.04.007.
10
[Arthropathy of hereditary hemochromatosis].[遗传性血色素沉着症的关节病]
Z Rheumatol. 2004 Feb;63(1):22-9. doi: 10.1007/s00393-004-0563-x.

引用本文的文献

1
Cardiotoxicity of Iron and Zinc and Their Association with the Mitochondrial Unfolded Protein Response in Humans.铁和锌的心脏毒性及其与人类线粒体未折叠蛋白反应的关系。
Int J Mol Sci. 2024 Sep 6;25(17):9648. doi: 10.3390/ijms25179648.
2
Hemochromatosis-How Not to Overlook and Properly Manage "Iron People"-A Review.血色素沉着症——如何不忽视并妥善管理“铁人”——一篇综述
J Clin Med. 2024 Jun 23;13(13):3660. doi: 10.3390/jcm13133660.
3
genotypes, haemochromatosis diagnosis and clinical outcomes at age 80 years: a prospective cohort study in the UK Biobank.

本文引用的文献

1
Incidence of Symptomatic Arrhythmias and Utilization of Arrhythmia Testing in 10-year Follow up of Cardiac Asymptomatic Hereditary Hemochromatosis Subjects.心脏无症状遗传性血色素沉着症患者10年随访中症状性心律失常的发生率及心律失常检测的应用情况
Am J Cardiol. 2021 Oct 15;157:153-154. doi: 10.1016/j.amjcard.2021.07.031. Epub 2021 Aug 16.
2
Cardiovascular manifestations in hospitalized patients with hemochromatosis in the United States.美国住院铁过载患者的心血管表现。
Int J Cardiol. 2021 Nov 1;342:117-124. doi: 10.1016/j.ijcard.2021.07.060. Epub 2021 Jul 31.
3
Iron overload: Effects on cellular biochemistry.
基因型、血色病诊断和 80 岁时的临床结局:英国生物库中的一项前瞻性队列研究。
BMJ Open. 2024 Mar 13;14(3):e081926. doi: 10.1136/bmjopen-2023-081926.
4
Clinical and genetic predictors of cardiac dysfunction assessed by echocardiography in patients with hereditary hemochromatosis.经超声心动图评估遗传性血色素沉着症患者心脏功能障碍的临床和遗传预测因子。
Int J Cardiovasc Imaging. 2024 Jan;40(1):45-53. doi: 10.1007/s10554-023-02973-0. Epub 2023 Oct 11.
5
Evaluation of recipients with significant comorbidity - Patients with cardiovascular disease.评估伴有严重合并症的受者 - 心血管疾病患者。
J Hepatol. 2023 Jun;78(6):1089-1104. doi: 10.1016/j.jhep.2023.03.023.
铁过载:对细胞生物化学的影响。
Clin Chim Acta. 2020 May;504:180-189. doi: 10.1016/j.cca.2019.11.029. Epub 2019 Nov 29.
4
Haemochromatosis.血色病。
Nat Rev Dis Primers. 2018 Apr 5;4:18016. doi: 10.1038/nrdp.2018.16.
5
Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype.C282Y/C282Y 纯合基因型 HFE 血色病的治疗建议。
Hepatol Int. 2018 Mar;12(2):83-86. doi: 10.1007/s12072-018-9855-0. Epub 2018 Mar 27.
6
Hemochromatosis Protein (HFE) Knockout Mice As a Novel Model of Hemochromatosis: Implications for Study and Management of Iron-Overload Cardiomyopathy.血色素沉着症蛋白(HFE)基因敲除小鼠作为血色素沉着症的新型模型:对铁过载心肌病研究与管理的启示
Can J Cardiol. 2017 Jul;33(7):835-837. doi: 10.1016/j.cjca.2017.04.013. Epub 2017 May 3.
7
Hemoglobin and Myoglobin as Reducing Agents in Biological Systems. Redox Reactions of Globins with Copper and Iron Salts and Complexes.血红蛋白和肌红蛋白作为生物系统中的还原剂。球蛋白与铜盐、铁盐及配合物的氧化还原反应。
Biochemistry (Mosc). 2016 Dec;81(13):1735-1753. doi: 10.1134/S0006297916130101.
8
Hereditary haemochromatosis through 150 years.150年来的遗传性血色素沉着症。
Tidsskr Nor Laegeforen. 2016 Dec 20;136(23-24):2017-2021. doi: 10.4045/tidsskr.15.1003. eCollection 2016 Dec.
9
Serum ferritin is a biomarker for liver mortality in the Hemochromatosis and Iron Overload Screening Study.血清铁蛋白是血色素沉着症和铁过载筛查研究中肝脏死亡率的生物标志物。
Ann Hepatol. 2015 May-Jun;14(3):348-53.
10
Cardiac involvement in hemochromatosis.血色病中的心脏受累。
Cardiol Rev. 2014 Mar-Apr;22(2):56-68. doi: 10.1097/CRD.0b013e3182a67805.