遗传性高铁蛋白血症-白内障综合征是一种少见的遗传性铁代谢疾病,属常染色体显性遗传,是由于铁蛋白轻链基因5’-非翻译区的铁效应元件的突变所致。临床特点为血清铁蛋白水平显著增高和双侧先天性白内障,但无铁负荷增加的实验室指标,以及无炎症和或肿瘤存在的证据。本文对遗传性高铁蛋白血症-白内障综合征的分子遗传发病机制、与铁稳态调控的关系及其临床特点作一综述。 Hereditary Hypothalamic-Cataract Syndrome is a rare hereditary iron metabolism disease that is autosomal dominant due to a mutation in the iron effector of the 5’-untranslated region of the ferritin light chain gene. Clinical features are laboratory markers of significantly elevated serum ferritin levels and bilateral congenital cataracts, but no increased iron load, as well as evidence of no inflammation and / or the presence of tumors. This review summarizes the molecular genetic pathogenesis of hereditary hypertriglyceridemia-cataract syndrome and its relationship with iron homeostasis and its clinical features.