遗传性血色素沉着症的发病机制。

Pathogenesis of hereditary hemochromatosis.

作者信息

Fleming Robert E, Britton Robert S, Waheed Abdul, Sly William S, Bacon Bruce R

机构信息

Department of Pediatrics, Saint Louis University School of Medicine, Cardinal Glennon Childrens Hospital, 1465 S. Grand Blvd, St. Louis, MO 63104, USA.

出版信息

Clin Liver Dis. 2004 Nov;8(4):755-73, vii. doi: 10.1016/j.cld.2004.06.004.

DOI:10.1016/j.cld.2004.06.004

PMID:15464654

Abstract

Hereditary hemochromatosis comprises several inherited disorders of iron homeostasis characterized by increased gastrointestinal iron absorpstion and resultant tissue iron deposition. The identification of HFE and other genes involved in iron metabolism has greatly expanded our understanding of hereditary hemochromatosis. Two major hypotheses have been proposed to explain the pathogenesis of HFE-related hereditary hemochromatosis: the hepcidin hypothesis and the duodenal crypt cell programming hypothesis.

摘要

遗传性血色素沉着症包括几种遗传性铁稳态紊乱疾病，其特征是胃肠道铁吸收增加以及由此导致的组织铁沉积。HFE基因和其他参与铁代谢的基因的鉴定极大地扩展了我们对遗传性血色素沉着症的认识。已经提出了两种主要假说来解释与HFE相关的遗传性血色素沉着症的发病机制：铁调素假说和十二指肠隐窝细胞编程假说。