Nowa wersja platformy jest już dostępna.
Przejdź na


Preferencje help
Widoczny [Schowaj] Abstrakt
Liczba wyników
2010 | 5 | 2 | 145-149
Tytuł artykułu

Wilson’s disease

Treść / Zawartość
Warianty tytułu
Języki publikacji
Wilson’s disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene. Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces different clinical manifestations such as hepatic, neurological, hematological, ophthalmological, and psychiatric problems. Diagnosis is based on clinical suspicion, parameters of copper metabolism, ophthalmic examination (Kayser-Fleischer rings) and a liver biopsy. Genetic studies are of limited use. Early diagnosis and initiation of therapy with chelators and therapeutic plasma exchange therapy are essential for prognosis. Liver transplantation corrects the underlying pathophysiology and can be lifesaving in fulminant hepatic failure. Screening of siblings and 1st degree relatives of the patients is also important.

Opis fizyczny
  • Internal Medicine Department, Vakif Gureba Training & Research Hospital, 34100, Istanbul, Turkey,
  • Internal Medicine Department, Vakif Gureba Training & Research Hospital, 34100, Istanbul, Turkey
  • Gastroenterohepatology clinic, Medikal Park Hospital, 34349, Istanbul, Turkey
  • Internal Medicine Department, Vakif Gureba Training & Research Hospital, 34100, Istanbul, Turkey
  • [1] Gitlin JD. Wilson disease. Gastroenterology. 2003 Dec;125(6):1868–1877. Review[Crossref]
  • [2] Schilsky ML. Wilson disease: genetic basis of copper toxicity and natural history. Semin Liver Dis. 1996 Feb;16(1):83–95[Crossref]
  • [3] Tao TY, Gitlin JD. Hepatic copper metabolism: insights from genetic disease. Hepatology. 2003 Jun;37(6):1241–1247. Review[Crossref]
  • [4] Roberts EA, Schilsky ML; A practice guideline on Wilson disease. Hepatology. 2003 Jun; 37(6):1475–1492[Crossref]
  • [5] Hursitoglu M, Kara O, Cikrikcioglu MA, Celepkulu T, Aydin S, Tukek T. Clinical improvement of a patient with severe Wilson’s disease after a single session of therapeutic plasma Exchange. J Clin Apher. 2009;24(1):25–27[Crossref]
  • [6] Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet 1993;5:327–337[Crossref]
  • [7] Kinebuchi M, Matsuura A, Ohya K, Abo W, Kitazawa J. Contribution of Va24Vb11 natural killer T cells in Wilsonian hepatitis. Clin Exp Immunol 2005;139:144–151[Crossref]
  • [8] Wang XH, Cheng F, Zhang F, Li XC, Qian JM, Kong LB, Zhang H, Li GQ. Copper metabolism after living related liver transplantation for Wilson’s disease. World J Gastroenterol. 2003 Dec;9(12):2836–2838
  • [9] Stracciari A, Tempestini A, Borghi A, Guarino M. Effect of liver transplantation on neurological manifestations in Wilson disease. Arch Neurol. 2000 Mar;57(3):384–386[Crossref]
  • [10] Lee JJ, Kim HJ, Chung IJ, Kook H, Byun JR, Kwon SY, Park MR, Choi KS, Hwang TJ, Ryang DW. Acute hemolytic crisis with fulminant hepatic failure as the first manifestation of Wilson’s disease: a case report. J Korean Med Sci. 1998 Oct;13(5):548–550 [Crossref]
  • [11] Mak CM, Lam CW Diagnosis of Wilson’s disease: a comprehensive review. Crit Rev Clin Lab Sci. 2008;45(3):263–290. Review[Crossref]
  • [12] Medici V, Rossaro L, Sturniolo GC. Wilson disease-a practical approach to diagnosis, treatment and follow-up. Dig Liver Dis. 2007 Jul;39(7):601–609. Epub 2007 Mar 26. Review[Crossref]
  • [13] Monro P. Effect of treatment on renal function in severe osteomalacia due to Wilson’s disease. J Clin Pathol. 1970 Sep;23(6):487–491[Crossref]
  • [14] Gow PJ, Smallwood RA, Angus PW, Smith AL, Wall AJ, Sewell RB. Diagnosis of Wilson’s disease: an experience over three decades. Gut 2000;46:415–419[Crossref]
  • [15] Demir D, Kaymakoglu S, Dincer D, et al. Problems Encountered In The Diagnosis Of Wilson’s Disease. T Klin Gastroenterohepatol 2000, 11:11–16(English abstract)
  • [16] Alt ER, Sternlieb I, Goldfischer S. The cytopathology of metal overload. Int Rev Exp Pathol 1990;31:165–188 [PubMed]
  • [17] Ludwig J, Moyer TP, Rakela J. The liver biopsy diagnosis of Wilson’s disease. Methods in pathology. Am J Clin Pathol 1994;102:443–446
  • [18] Strand S, Hofmann WJ, Grambihler A, Hug H, Volkmann M, Otto G, et al. Hepatic failure and liver cell damage in acute Wilson’s disease involve CD95(APO-1/Fas) mediated apoptosis. Nat Med 1998;4:588–593
  • [19] Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson’s disease. Lancet. 2007 Feb 3;369(9559):397–408[Crossref]
  • [20] Ferenci P. Pathophysiology and clinical features of Wilson disease. Metab Brain Dis. 2004 Dec;19(3–4):229–239[Crossref]
  • [21] Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypicclassifi cation of Wilson disease. Liver Int 2003; 23: 139–142[Crossref]
  • [22] Walshe JM, Waldenström E, Sams V, Nordlinder H, Westermark K. Abdominal malignancies in patients with Wilson’s disease. QJM. 2003 Sep;96(9):657–662[Crossref]
  • [23] Lau JY, Lai CL, Wu PC, Pan HY, Lin HJ, Todd D. Wilson’s disease: 35years’ experience. Q J Med 1990;75:597–605
  • [24] Falkmer S, Samuelson G, Sjolin S. Penicillamineinduced normalization of clinical signs, and liver morphology and histochemistry in a case of Wilson’s disease. Pediatrics 1970;45:260–268
  • [25] Czlonkowska A, Gajda J, Rodo M. Effects of long-term treatment in Wilson’s disease with D-penicillamine and zinc sulphate. J Neurol 1996; 243:269–273[Crossref]
  • [26] Brewer GJ, Yuzbasiyan-Gurkan V, Young AB. Treatment of Wilson’s disease. Semin Neurol 1987;7:209–220[Crossref]
  • [27] Asfaha S, Almansori M, Qarni U, Gutfreund KS. Plasmapheresis for hemolytic crisis and impending acute liver failure in Wilson disease. J Clin Apher. 2007;22(5):295–298[Crossref]
  • [28] Nagata Y, Uto H, Hasuike S, Ido A, Hayashi K, Eto T, Hamakawa T, Tanaka K, Tsubouchi H. Bridging use of plasma exchange and continuous hemodiafiltration before living donor liver transplantation in fulminant Wilson’s disease. Intern Med. 2003 Oct;42(10):967–970[Crossref]
  • [29] Dabrowska E, Jabłońska-Kaszewska I, Oziebłowski A, Falkiewicz B. Acute haemolytic syndrome and liver failure as the first manifestations of Wilson’s disease. Med Sci Monit 2001;7Suppl 1:246–251
Typ dokumentu
Identyfikator YADDA
JavaScript jest wyłączony w Twojej przeglądarce internetowej. Włącz go, a następnie odśwież stronę, aby móc w pełni z niej korzystać.