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纯合子C282Y突变相关遗传性血色素沉着症患者的简短通讯

A brief communication of patients with homozygous C282Y mutation-related hereditary hemochromatosis.

作者信息

Gokcan Hale, Oz Didem Kuru, Bodakci Emin, Tunc Esra, Idilman Ramazan

机构信息

Department of Gastroenterology, Ankara University School of Medicine, Ankara, Turkiye.

Department of Radiology, Ankara University School of Medicine, Ankara, Turkiye.

出版信息

Hepatol Forum. 2024 Jul 2;5(3):161-164. doi: 10.14744/hf.2024.2024.0020. eCollection 2024.

DOI:10.14744/hf.2024.2024.0020
PMID:39006143
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11237243/
Abstract

Hereditary hemochromatosis (HH) is an autosomal recessive inherited iron-loading disorder and is characterized by chronic hepatitis, cirrhosis, diabetes, and bronze skin. The hemochromatosis gene (C282Y homozygosity)-related hemochromatosis is the most common form of HH. The prevalence of HH is varied. Here, we defined six cases with C282Y homozygosity-related HH in a single center in Turkiye.

摘要

遗传性血色素沉着症（HH）是一种常染色体隐性遗传性铁过载疾病，其特征为慢性肝炎、肝硬化、糖尿病和青铜色皮肤。血色素沉着症基因（C282Y纯合子）相关的血色素沉着症是HH最常见的形式。HH的患病率各不相同。在此，我们在土耳其的一个单一中心确定了6例C282Y纯合子相关的HH病例。

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本文引用的文献

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Guideline Review: European Association for the Study of Liver (EASL) Clinical Practice Guidelines on Haemochromatosis.指南综述：欧洲肝脏研究协会（EASL）血色病临床实践指南
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Quantification of Liver Iron Overload with MRI: Review and Guidelines from the ESGAR and SAR.MRI 定量肝脏铁过载：ESGAR 和 SAR 的综述与指南。
Radiology. 2023 Apr;307(1):e221856. doi: 10.1148/radiol.221856. Epub 2023 Feb 21.
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EASL Clinical Practice Guidelines on haemochromatosis.EASL 临床实践指南：血色病
J Hepatol. 2022 Aug;77(2):479-502. doi: 10.1016/j.jhep.2022.03.033. Epub 2022 Jun 1.
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Quantitative T2* imaging of iron overload in a non-dedicated center - Normal variation, repeatability and reader variation.非专业中心铁过载的定量T2*成像——正常变异、重复性及阅片者差异
Eur J Radiol Open. 2021 May 24;8:100357. doi: 10.1016/j.ejro.2021.100357. eCollection 2021.
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Revisiting hemochromatosis: genetic phenotypic manifestations.再探血色素沉着症：遗传与表型表现
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7
Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancy.血色病 HFE p.C282Y 纯合子与肝恶性肿瘤的关联。
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Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank.与遗传性血色素沉着症遗传变异相关的常见病症：英国生物库队列研究。
BMJ. 2019 Jan 16;364:k5222. doi: 10.1136/bmj.k5222.
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Role of liver magnetic resonance imaging in hyperferritinaemia and the diagnosis of iron overload.肝脏磁共振成像在高铁蛋白血症及铁过载诊断中的作用
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EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).欧洲分子基因诊断质量联盟（EMQN）遗传性血色素沉着症（HH）分子遗传学诊断的最佳实践指南。
Eur J Hum Genet. 2016 Apr;24(4):479-95. doi: 10.1038/ejhg.2015.128. Epub 2015 Jul 8.