血色病的临床与基础研究进展

遗传性血色病（Hereditary Hemochromatosis，HH）是一种西方常见的遗传性铁过载性疾病。目前已知的血色病基因主要包括剧硒、YfR2、HJV、FPN及HAMP。这些基因突变导致大量铁离子逐渐沉积在肝、心、胰腺等脏器的实质细胞，造成组织纤维化和结构改变，最终引起器官功能障碍和衰竭，常见症状有肝硬化、肝癌、糖尿病、心力衰竭、垂体及性腺功能减退、关节疾病和皮肤色素沉着等。当前，机体铁代谢分子机制研究的飞速发展，为深入了解血色病带来了契机。综合铁代谢研究领域最新进展，着重对血色病发展历程、发病机制、临床表现、诊断、治疗及中国血色病现状等方面展开综述。

Advances in pathophysiology, diagnosis, and management of hereditary hemochromatosis

Hereditary Hemochromatosis is an inherited iron overload disease common in people of northern European descent. It is characterized by progressive iron deposition in parenchymal cells of multiple organs, which result from mutations in several genes involved in iron metabolism： HFE, TfR2, HJV, FPN and HAMP. Patients with hereditary hemochromatosis can develop： liver fibrosis, cirrhosis, hepatocellular carcinoma, diabetes mellitus, cardiomyopathy, endocrinopathy, arthritis, and skin pigmentation. Our understanding of hemochromatosis has beengreatly facilitated by recent and rapid progress made in the study of iron metabolism. This review focuses on the natural history, pathogenesis, diagnosis, and treatment of hereditary hemochromatosis.