遗传性高铁蛋白血症-白内障综合征的研究进展

Research advances of hereditary hyperferritinemia-cataract syndrome

遗传性高铁蛋白血症-白内障综合征是一种较为罕见的常染色体显性遗传病,主要表现为血清中铁蛋白的持续性升高但不伴有铁负荷改变及其他血液学方面的异常,同时患者伴有双眼早发性白内障,除此之外无其他特征性的临床改变。本文将从该综合征的流行病学及发病机制、临床表现、鉴别诊断、治疗及预后等方面对该综合征进行综述。

Hereditary hyperferritinemia cataract syndrome is a rare autosomal dominant disorder characterized by elevated levels of serum ferritin in the absence of iron overload and hematological abnormalities,with development of bilateral cataracts early in life.This paper reviews the origin and epidemiological characteristics,clinical manifestations,differential diagnosis,and treatment of the hereditary hyperferritinemia cataract syndrome.