| Autor: |
Кофинова, Д., Банчев, А., Байчева, М., Шентова-Енева, Р., Стоянова, Д., Хаджийски, П., Янева, П., Константинов, Д., Савов, А. |
| Zdroj: |
Pediatria; 2020, Vol. 60 Issue 4, p53-54, 2p |
| Abstrakt: |
Wilson’s disease is a rare autosomal recessive disorder caused by a mutation in the ATP7B gene localized on chromosome 13. It is characterized by deposition of copper in the liver, central nervous system, kidneys, cornea, bones and other organs. Acute hemolytic anemia is a rare first manifestation in Wilson’s disease, but it should not be missed in Coomb’s negative hemolytic anemia with liver involvement. We present a case of acute hemolytic anemia in a 7-year-old girl with Wilson’s disease and liver failure. The girl had Kayser-Fleisher ring in both eyes, elevated induced cupriuria and normal levels of ceruloplasmin. The patient was a homozygous carrier of IVS4-1 (c.1708-1 G>A) mutation. She responded successful to treatment with D-penicillamine. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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