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Wilson病肾脏损害研究概况 被引量:1

The research progress of the renal damage of Wilson disease
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摘要 威尔逊氏病(WD),即肝豆状核变性(hepatolenticular degeneration),也称HLD,是一种涉及铜代谢障碍的单基因常染色体隐性遗传病。WD是由13号染色体的ATP7B基因突变引起。
出处 《中医药临床杂志》 2016年第3期330-333,共4页 Clinical Journal of Traditional Chinese Medicine
基金 安徽省科技攻关计划项目(12010402114) 国家自然科学基金项目(81473535)
关键词 WILSON病 肾脏损害 肝豆状核变性 Wilson Disease, renal impairment, hepatolentieular degeneration
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参考文献23

  • 1Cheng N, Wang K, Hu W, et al. Wilson disease in the South chinese han population[J].Can J Neurol Sci, 2014,41( 3 ):.363-367.
  • 2Dong QY, Wu ZY. Advance in the pathogenesis and treatment of Wilson disease[J].Transl Neurodegener,2012,1 ( 1 ):23.
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  • 4Dastych M, Prochazkova D, Pokorny A, et al. Copper and zinc in the serum, urine, and hair of patients with Wilson's disease treated with penicillamine and zinc[J].Biol Trace Elem Res, 2010, 133 ( 3 ) :265-269.
  • 5Wang H, Zhou Z, Hu J, et al.Renal impairment in different phenotypes of Wilson disease[J].Neurol Sci, 2015,36 ( 11 ):2111- 2115.
  • 6Linz R, Barnes NL, Zimnicka AM, et al.Intracellular targeting of copper-transporting ATPase ATP7A in a normal and AtpTb-/- kidney[J].Am J Physiol Renal Physiol, 2008,294 ( 1 ) :F53-61.
  • 7Lutsenko S, Petris MJ.Function and regulation of the mammalian copper-transporting ATPases:insights from biochemical and cell biological approaches[J].J Membr Biol,2003,191 ( 1 ) :1-12.
  • 8Clinical Practice Guidelines. Wilson' s disease[J].J Hepatol,2012 ( 56 ) :671-685.
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  • 10Zhuang XH, Mo Y, Jiang XY, et al.Analysis of renal impairment in children with Wilson' s disease[J].World J Pediatr,2008,4 ( 2 ) :102-105.

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