Liver Cirrhosis with Inherited Liver Disease: Hemochromatosis
Liver Cirrhosis with Inherited Liver Disease: Hemochromatosis
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DOI：
10.1007/978-981-13-7979-6_4
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发表时间：
2019-01-01
期刊：
影响因子：
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通讯作者：
Nishina, Sohji
中科院分区：
文献类型：
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作者：
Hino, Keisuke;Nishina, Sohji
虽然肝硬化最常见的原因是乙型和丙型肝炎病毒、酒精和非酒精性脂肪肝，但遗传性血色素沉着病作为遗传性肝病之一，也会导致肝硬化。遗传性血色素沉着症的特征是铁不仅沉积在肝脏中，而且还沉积在心脏和内分泌器官中。因此，如果没有早期诊断和及时开始治疗，遗传性血色素沉着病可能会进展为肝硬化、糖尿病、心力衰竭和/或性腺功能减退症。另一方面，重要铁代谢分子和基因（如铁调素、铁转运蛋白和 HFE）的鉴定使了解遗传性血色病的分子机制并在疾病早期引入适当的治疗成为可能。本章将回顾和讨论铁代谢调节以及遗传性血色病的分子和临床特征。
Although liver cirrhosis is most commonly caused by hepatitis B and C viruses, alcohol, and nonalcoholic fatty liver disease, hereditary hemochromatosis also causes cirrhosis as one of the hereditary liver diseases. Hereditary hemochromatosis is characterized by iron deposition not only in the liver but also in heart and endocrine organs. Therefore, hereditary hemochromatosis potentially progresses to liver cirrhosis, diabetes mellitus, heart failure, and/or hypogonadism without early diagnosis and prompt initiation of treatment. On the other hand, the identification of important iron metabolic molecules and genes such as hepcidin, ferroportin, and HFE has made it possible to understand the molecular mechanisms underlying hereditary hemochromatosis and to introduce proper treatment at the early stage of disease. This chapter will review and discuss the iron metabolic regulation and the molecular and clinical characteristics of hereditary hemochromatosis.