Öz
Wilson’s disease is an autosomal recessive disorder of copper metabolism characterized by excessive amount of copper in liver, brain, eye and other body tissues. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ceruloplasmin concentration. The main clinical symptoms are usually due to hepatic and/or neurologic involvement. Pancytopenia is a rare initial symptom of Wilson Disease. An 11-year-old female presented with pancytopenia. This raised suspicion of Wilson’s disease, which was confirmed by Kayser-Fleischer rings, a low ceruloplasmin level and raised 24- hour urine copper level. Thus a pancytopenia may be the initial manifestation of Wilson’s disease in some patients of Wilson’s disease.
Key Words: Wilson’s disease, pancytopenia, Kayser-Fleischer rings
Anahtar Kelimeler
Kaynakça
- Seo JK. Wilson disease: an update. Korean J Hepatol. 2006;12(3):333-63.
- Terada K, Kawarada Y, Miura N, Yasui O, Koyama K, Sugiyama T. Copper incorporation into ceruloplasmin in rat livers. Biochem Biophys Acta.1995;1270:58-62.
- Seo JK. Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis. Pediatr Gastroenterol Hepatol Nutr. 2012;15(4):197-209.
- Mak CM, Tam S, Fan ST, Liu CL, Lam CW. Wilson's disease: a patient undiagnosed for 18 years. Hong Kong Med J. 2006;12(2):154-8.
- Sharma S, Toppo A, Rath B, Harbhajanka A, Lalita Jyotsna P. Hemolytic Anemia as a Presenting Feature of Wilson's Disease: A Case Report. Indian J Hematol Blood Transfus. 2010;26(3):101-2.
- Bellary SV, Van Thiel DH. Wilson's disease: a diagnosis made in two individuals greater than 40 years of age. J Okla State Med Assoc. 1993;86(9):441-4.
- Kaetz HW, Brodoff SS, Robbins AW. Wilson's Disease presenting as pancytopenia: splenectomy in management. Conn Med. 1966;30(5):338-40.
- Goldman M, Ali M. Wilson's disease presenting as Heinz-body hemolytic anemia. CMAJ. 1991;145(8):971-2.
- Balkema S, Hamaker ME, Visser HP, Heine GD, Beuers U. Haemolytic anaemia as a first sign of Wilson's disease. Neth J Med. 2008;66(8):344-7.
- Ferenci P. Review article: diagnosis and current therapy of Wilson's disease. Aliment Pharmacol Ther. 2004;19(2):157-65.
Öz
Wilson hastalığı karaciğer, beyin, göz ve diğer vücut
dokularında aşırı miktarda bakır birikimi ile karakterize bakır
metabolizmasının otozomal resesif geçişli bir hastalığıdır.
Tanı, Kayser-Fleischer halkası, tipik nörolojik semptomlar
ve/veya düşük serum seruloplazmin konsantrasyonu
varlığına dayanmaktadır. Başlıca klinik belirtiler; karaciğer
ve/veya nörolojik tutulum ile ilişkilidir. Pansitopeni, Wilson
Hastalığının nadir bir başlangıç belirtisidir. Vakamız,
pansitopeni ile prezente olmuş 11 yaş kız hastadır. Wilson
hastalığından şüphe duyulan bu hastamızda, KayserFleischer
halkaları, düşük seruloplazmin düzeyi ve yüksek
24 saatlik idrar bakır düzeyi varlığı ile tanı kesinleşmiştir.
Bizim vakamızda olduğu gibi pansitopeni wilson
hastalarında hastalığın ilk belirtisi olabilmektedir.
Anahtar Kelimeler
Kaynakça
- Seo JK. Wilson disease: an update. Korean J Hepatol. 2006;12(3):333-63.
- Terada K, Kawarada Y, Miura N, Yasui O, Koyama K, Sugiyama T. Copper incorporation into ceruloplasmin in rat livers. Biochem Biophys Acta.1995;1270:58-62.
- Seo JK. Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis. Pediatr Gastroenterol Hepatol Nutr. 2012;15(4):197-209.
- Mak CM, Tam S, Fan ST, Liu CL, Lam CW. Wilson's disease: a patient undiagnosed for 18 years. Hong Kong Med J. 2006;12(2):154-8.
- Sharma S, Toppo A, Rath B, Harbhajanka A, Lalita Jyotsna P. Hemolytic Anemia as a Presenting Feature of Wilson's Disease: A Case Report. Indian J Hematol Blood Transfus. 2010;26(3):101-2.
- Bellary SV, Van Thiel DH. Wilson's disease: a diagnosis made in two individuals greater than 40 years of age. J Okla State Med Assoc. 1993;86(9):441-4.
- Kaetz HW, Brodoff SS, Robbins AW. Wilson's Disease presenting as pancytopenia: splenectomy in management. Conn Med. 1966;30(5):338-40.
- Goldman M, Ali M. Wilson's disease presenting as Heinz-body hemolytic anemia. CMAJ. 1991;145(8):971-2.
- Balkema S, Hamaker ME, Visser HP, Heine GD, Beuers U. Haemolytic anaemia as a first sign of Wilson's disease. Neth J Med. 2008;66(8):344-7.
- Ferenci P. Review article: diagnosis and current therapy of Wilson's disease. Aliment Pharmacol Ther. 2004;19(2):157-65.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 30 Mart 2015 |
| Gönderilme Tarihi | 8 Nisan 2015 |
| Yayımlandığı Sayı | Yıl 2015 Cilt: 6 Sayı: 21 |
