A case of hemochromatosis with anemia and severe jaundice
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摘要: <正>遗传性血色病(hereditary hemochromatosis,HH)是由铁代谢紊乱引起体内铁负荷过多所致的一种常染色体院性遗传疾病。临床表现为乏力、倦怠、糖尿病、皮肤色素沉着症、肝硬化、心肌病、关节炎等。HH的地理分布呈世界性,在北欧日耳曼和高加索人群中的发病率约1/2201/250[1-2],在亚太地区较少见。1病例资料患者男性,63岁,因"反复黄疸40余年,加重1 d"入
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Key words:
- hemochromatosis /
- anemia /
- jaundice /
- case reports
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[1]BACON BR, ADAMS PC, KOWDLEY KV, et al.Diagnosis and management of hemochromatosis:2011 Practice Guideline by the American Association for the Study of Liver Diseases[J].Hepatology, 2011, 54 (1) :328-343. [2]WOOD MJ, SKOIEN R, POWELL LW.The global burden of iron overload[J].Hepatol Int, 2009, 3 (3) :434-444. [3]LYU TX, ZHANG W, LI XJ, et al.Characteristics of gene mutation in Chinese patients with hereditary hemochromatosis[J].J Clin Hepatol, 2016, 32 (8) :1571-1574. (in Chinese) 吕婷霞, 张伟, 李潇瑾, 等.我国人群遗传性血色病基因突变特点分析[J].临床肝胆病杂志, 2016, 32 (8) :1571-1574. [4]BOTTOMLEY SS.Secondary iron overload disorders[J].Semin Hematol, 1998, 35 (1) :77-86.
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