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.
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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