Abstract
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.
Keywords
References
- 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.
Abstract
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
Keywords
References
- 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.
Details
| Other ID | JA77ZJ24BU |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | December 1, 2011 |
| Submission Date | December 1, 2011 |
| Published in Issue | Year 2011 Volume: 5 Issue: 1 |
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication, with at least 10 original articles in each issue, taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
The aim of the Turkish Journal of Pediatrics is to publish high-quality original research articles that will contribute to the international literature in the field of general pediatric health and diseases and its sub-branches. It also publishes editorial opinions, letters to the editor, reviews, case reports, book reviews, comments on previously published articles, meeting and conference proceedings, announcements, and biography. In addition to the field of child health and diseases, the journal also includes articles prepared in fields such as surgery, dentistry, public health, nutrition and dietetics, social services, human genetics, basic sciences, psychology, psychiatry, educational sciences, sociology and nursing, provided that they are related to this field. can be published.