文档介绍：302 J Clini Hepatol, March 2011, ,
论著/其他
1个遗传性血色病家系的临床MRI诊断
李爱华a, 黄金明a ,孔祥泉b,叶进a,侯晓华a
(华中科技大学同济医学院附属协和医院 ;,武汉 430022)
摘要:目的探讨一个遗传性血色病(HH)家系(A)及其旁系(B)的临床MRI特点。方法对A、B家系成员进行临床、生化、肝
穿活检组织铁染色及多器官MRI检查。结果(1)部分成员有血色病相关临床表现及异常生化指标;(2)3例患者接受肝活检,发
现2例肝细胞内较多铁质沉积,另1例未见明显铁沉积;(3)MRI:部分成员心肝脾胰有不同程度的铁质沉积,表现为低信号影,
肾脏、大脑均未见铁沉积。结论(1)该血色病家系HH患者铁质主要沉积在肝脏,其他脏器如心脏、脾脏、胰腺亦有累及;而其
旁系可见部分成员生化异常及脏器铁沉着,但尚未发现相关血色病临床表现,是否处于发病早期尚待随访观察;(2)与肝活检相
比,MRI对组织铁沉积诊断较为准确。
关键词: 血色素沉着症;磁共振成像
中图分类号: R596 文献标识码: A 文章编号: 1001-5256(2011)03-0302-04
The ic resonance imaging findings in a hereditary hemochromatosis pedigree
LI Ai-hua, HUANG Jin-ming, KONG Xiang-quan, et al. (Division of Gastroenterology, Union Hospital, Tongji Medical College,
Huazhong University of Science and Technology, Wuhan 430022, China)
Abstract: Objective To describe the clinical and ic resonance imaging(MRI) features of a hereditary hemochromatosis(HH)
pedigree(A) and its collateral(B). Methods Clinical, biochemical, liver biopsy and MRI studies were carried out among the family
members. Results (1)Some of the pedigree members showed hemochromatosis correlating symptom and physical sign. The biochemical
values presented different abnormal elevation. (2)3 patients received liver biopsy, of which 2 patients suffered from extensive hepatic
hemosiderin deposition which was revealed after the Prussian blue