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A Case of Wilson's Disease in Patient with Mildly Elevated Liver Enzymes

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Wilson’s disease is an autosomal recessive disorder affecting copper transport; it results in the accumulation of copper in the liver, brain, and other organs. Wilson’s disease is the most common inherited liver disease with more than 500cases reported in Korea. An impairment in biliary excretion process leads to copper accumulation in the liver, which progressively damages the liver, leading to cirrhosis. Since effective treatment is available for this disease, early and correct diagnosis is very important. Here, we report a case of Wilson’s disease with mildly elevated liver enzyme levels in a 29-yearold breast-feeding woman with weight loss.

Abstract

Wilson’s disease is an autosomal recessive disorder affecting copper transport; it results in the accumulation of copper in the liver, brain, and other organs. Wilson’s disease is the most common inherited liver disease with more than 500cases reported in Korea. An impairment in biliary excretion process leads to copper accumulation in the liver, which progressively damages the liver, leading to cirrhosis. Since effective treatment is available for this disease, early and correct diagnosis is very important. Here, we report a case of Wilson’s disease with mildly elevated liver enzyme levels in a 29-yearold breast-feeding woman with weight loss.

참고문헌 (18)

  1. Hoofnagle JH, "Serologic diagnosis of acute and chronic viral hepatitis", Semin Liver Dis, 11, pp.73~83 (1991)
  2. Liaw YF, "Hepatitis B virus infection", Lancet, 373, pp.582~592 (2009)
  3. Smith AD, "Viral hepatitis C", Lancet, 363, pp.661~ (2004)
  4. Seo JK, "Wilson disease: an update", Korean J Hepatol, 12, pp.333~363 (2006)
  5. Gitlin N, "Wilson's disease: the scourge of copper", J Hepatol, 28, pp.734~739 (1998)
  6. Seo JK, "A nationwide survey for prevalence and clinical characteristics of Wilson disease in Korea", Korean J Hepatol, 10, pp.S5~S15 (2004)
  7. Davies K, "Cloning the menkes disease gene", Nature, 361, pp.98~ (1993)
  8. Fatemi N, "Structural and functional insights of wilson disease copper-transporting ATPase", J Bioenerg Biomembr, 34, pp.339~349 (2002)
  9. Ferenci P, "Diagnosis and phenotypic classification of wilson disease", Liver Int, 23, pp.139~142 (2003)
  10. Gaffney D, "ACP best practice no 163. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring", J Clin Pathol, 53, pp.807~812 (2000)
  11. Nutt all KL, "Reference limits for copper and iron in liver biopsies", Ann Clin Lab Sci, 33, pp.443~450 (2003)
  12. Harada M, "Wilson disease", Med Electron Microsc, 35, pp.61~66 (2002)
  13. Pfeil SA, "Wilson's disease: copper unfettered", J Clin Gastroenterol, 29, pp.22~31 (1999)
  14. Walshe JM, "Wilson's disease presenting with features of hepatic dysfunction: a clinical analysis of eighty-seven patients", Q J Med, 70, pp.253~263 (1989)
  15. Dening TR, "Wilson's disease: psychiatric symptoms in 195 cases", Arch Gen Psychiatry, 46, pp.1126~1134 (1989)
  16. Roberts EA, "Division of Gastroenterology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada. A practice guideline on Wilson disease", Hepatology, 37, pp.1475~1492 (2003)
  17. Martins da Costa C, "Value of urinary copper excretion after penicillamine challenge in the diagnosis of wilson's disease", Hepatology, 15, pp.609~615 (1992)
  18. Walshe JM, "Penicillamine: the treatment of first choice for patients with Wilson's disease", Mov Disord, 14, pp.545~550 (1999)

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