Wilson's disease: a review

被引:0
作者
Espinoza Herrera, Yeinis Paola [1 ,2 ]
Munoz Ruiz, Luis Manuel [1 ,2 ]
Restrepo Gutierrez, Juan Carlos [3 ,4 ]
机构
[1] Univ Antioquia, Med, Medellin, Colombia
[2] Univ Antioquia, Grp Gastrohepatol, Medellin, Colombia
[3] Univ Antioquia, Hosp Pablo Tobon Uribe, Dept Med Interna, Hepatol, Medellin, Colombia
[4] Univ Antioquia, Hosp Pablo Tobon Uribe, Grp Gastrohepatol, Hepatol, Medellin, Colombia
关键词
Chelating agents; Copper metabolism; Hepatolenticular degeneration; Wilson's disease;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Wilson's disease is an autosomal recessive disorder caused by mutations in the ATP7B gene that lead to an abnormal metabolism of copper, resulting in the accumulation of this element in several organs and tissues. Its diagnosis is based on the combination of the clinical picture with various biochemical tests, neither one of which is, by itself, diagnostic of the disease. Presently there are effective treatments for EW based on the administration of chelating agents to promote mobilization of copper from the accumulation sites and its excretion. Zinc is also used in order to block the intestinal absorption of copper. Liver transplantation is the treatment of choice in patients with fulminating hepatitis, as well as in those with decompensated cirrhosis. This review includes the following aspects of Wilson's disease: biochemical, genetic, clinical, diagnostic, and therapeutic.
引用
收藏
页码:58 / 66
页数:9
相关论文
共 52 条
  • [1] Liver imaging findings of Wilson's disease
    Akpinar, Erhan
    Akhan, Okan
    [J]. EUROPEAN JOURNAL OF RADIOLOGY, 2007, 61 (01) : 25 - 32
  • [2] Wilson's disease
    Ala, Aftab
    Walker, Ann P.
    Ashkan, Keyoumars
    Dooley, James S.
    Schilsky, Michael L.
    [J]. LANCET, 2007, 369 (9559) : 397 - 408
  • [3] Treatment of Wilson's disease with zinc. XVIII. Initial treatment of the hepatic decompensation presentation with trientine and zinc
    Askari, FK
    Greenson, J
    Dick, RD
    Johnson, VD
    Brewer, GJ
    [J]. JOURNAL OF LABORATORY AND CLINICAL MEDICINE, 2003, 142 (06): : 385 - 390
  • [4] Auth MK, 2002, J PEDIAT GASTROENTER, V40, P54
  • [5] Bellary S, 1995, ACTA NEUROL SCAND, V92, P405
  • [6] Bressman SB, 2004, WILSON DIS
  • [7] Recognition, diagnosis, and management of Wilson's disease
    Brewer, GJ
    [J]. PROCEEDINGS OF THE SOCIETY FOR EXPERIMENTAL BIOLOGY AND MEDICINE, 2000, 223 (01): : 39 - 46
  • [8] Wilson's disease: clinical management and therapy
    Brewer, GJ
    Askari, FK
    [J]. JOURNAL OF HEPATOLOGY, 2005, 42 : S13 - S21
  • [9] Brewer GJ., 2001, WILSONS DIS CLIN GUI
  • [10] Cox DW, 2004, ENFERMEDADES GASTROI, P1344