Akut Hemolitik Kriz ve Fulminan Karaciğer Yetmezliği ile Başvuran Wilson Hastalığı Olgusu

Yıl 2011, Cilt: 5 Sayı: 1, 49 - 53, 01.12.2011

Arzu Duygu Dönmez Neşe Yaralı Fulya G. Demirçeken Ülker Ertan Bahattin Tunç

Öz

Wilson hastalığı çeşitli dokularda bakırın birikmesi ile karakterize bir metabolik bozukluktur. Hastaların çoğunda kronik karaciğer hastalığı veya nörolojik tutuluma bağlı semptomlar görülür. Nadiren, ilk bulgu olarak hemolitik kriz ile ortaya çıkabilir ve acil müdahale edilmediğinde ölümcül sonuçlar doğurabilir. Bu olgu, Coombs negatif hemolitik anemi ayırıcı tanısında Wilson hastalığına dikkat çekmek amacı ile takdim edilmiştir.

Anahtar Kelimeler

Wilson hastalığı, hemolitik, anemi

A CASE OF WILSON’S DISEASE ACCOMPANYING WITH ACUTE HEMOLYTIC CRISIS AND FULMINANT HEPATIC FAILURE

Öz

Wilson’s disease is a metabolic disorder characterized by accumulation of copper in several tissues. Most patients present with manifestations of chronic liver disease or neurologic complications. Rarely, hemolytic crisis may be the first manifestation and this condition may be mortal if not treated urgently. This case is reported to draw attention for Wilson’s disease in the differential diagnosis of Coombs negative hemolytic anemia

Anahtar Kelimeler

Wilson’s disease, hemolytic, crisis

Kaynakça

• Lee JJ, Kim HJ, Chung IJ, Kook H, Byun JR, Kwon SY, et al. Acute hemolytic crisis with fulminant hepatic failure as the first manifes- tation of Wilson’s disease. J Korean Med Sci 1998;13(5):548–50.
• 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): 295–8.
• Schumacher G, Platz KP, Mueller AR, Neuhaus R, Steinmüller T, Bechstein WO, et al. Liver transplantation: treatment of choice for hepatic and neurological manifestation of Wilson’s disease. Clin Transplant 1997;11(3):217-24.
• Wilson K. Progressive lenticular degeneration: a familiar nervous disease associated with cirrhosis of the liver. Brain 1912;34:295– 509.
• Attri S, Sharma N, Jahagirdar S, Thapa BR, Prasad R. Erythrocyte metabolism and antioxidant status of patients with wilson disease with hemolytic anemia. Pediatr Res 2006;59:593-7.
• Frydman M, Bonne-Tamir B, Farrer LA, Conneally PM, Magaza- nik A, Ashbel S,et al. Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. Proc Natl Acad Sci (U S A) 1985;82(6): 1819-21.
• Kitazawa J, Kaizuka M, Kasai M, Noda Y, Takahashi Y, Terui K, et al. Hemolytic crisis with fulminant hepatic failure in Wilson dis- ease without consanguinity. Pediatr Int 2004;46(6):726–9.
• Dabrowska E, Jablonska-Kaszewska I, Ozieblowski A, Falkiewicz B. Acute haemolytic syndrome and liver failure as the first mani- festation of Wilson’s disease. Med Sci Monit 2001;7:246-51.
• Prochazkova D, Pouchla S, Mejzlik V, Kyr M, Zampachova V, Hrstkova H. Haemolytic anaemia and acute liver failure- the initial manifestations of Wilson’s disease. Bratisl Lek Listy 2008;109(10):434-7.
• Enomoto K, Ishibashi H, Irie K, Okumura Y, Nomura H, Fukushi- ma M,et al. Fulminant hepatic failure without evidence of cirrhosis in a case of Wilson’s disease. Jpn J Med 1989;28(1):80–4.
• Roberts EA, Schilsky ML. American Association for Study of Liv- er Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology 2008;47(6):2089-111.
• Ferenci P. Review article: Diagnosis and current therapy of Wil- son’s disease. Aliment Pharmacol Ther 2004;19(2):157-65.
• Caprai S, Loudianos G, Massei F, Gori L, Lovicu M, Maggiore G . Direct diagnosis of Wilson disease by molecular genetics. J Pediatr 2006;148(1):138-40.
• Pirisi M, Branca B, Avellini C, Solinas A. A 15 year old girl with fever, jaundice, haemolysis, and sudden clinical deterioration. Postgrad Med J 2002;78(918):250-4.
• Willms B, Blume KG, Löhr GW. Hemolytic anemia in Wil- son’s disease (hepato-lenticular degeneration). Klin Wochenschr 1972;50(21):995-1002.
• Hochstein P, Kumar KS, Forman SJ. Mechanisms of copper toxic- ity in red cells. Prog Clin Biol Res 1978;21:669-86.
• Deiss A, Lee GR, Cartwright GE. Hemolytic anemia in Wilson’s disease. Ann Intern Med 1970;73(3):413–8.
• Harmanci O, Buyukasik Y, Bayraktar Y. Successful plasma ex- change treatment in hemolytic crisis of Wilson’s disease prevent- ing liver transplantation. Dig Dis Sci 2006;51(7):1230.