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Blood ; 100(3): 774-7, 2002 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-12130485

RESUMO

We describe data on a 7-year-old girl with congenital dyserythropoietic anemia (CDA), who also had familial Mediterranean fever (FMF). Repeated transfusions required since the age of 6 months to treat her CDA led to iron overload and a persistently high ferritin level. Her relapsing FMF made effective iron chelation therapy very difficult. Consequently, at the age of 4 years, she underwent allogeneic, sibling bone marrow transplantation (BMT). During conditioning for her BMT, symptoms of FMF, including splenomegaly, arthritis, and recurrent abdominal pain, began to resolve and she was gradually weaned off colchicine. Now, 2 years after the transplantation, she remains free from FMF symptomatology and is off all immunosuppressants. This case demonstrates that symptoms of FMF can be alleviated by the therapy used during allogeneic BMT. In this patient it is likely that the missing factor in FMF is now being provided by granulocytes derived from the stem cells within transplanted bone marrow.


Assuntos
Transplante de Medula Óssea , Febre Familiar do Mediterrâneo/terapia , Anemia Diseritropoética Congênita/complicações , Anemia Diseritropoética Congênita/genética , Anemia Diseritropoética Congênita/terapia , Criança , Análise Mutacional de DNA , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/genética , Feminino , Humanos , Sobrecarga de Ferro/etiologia , Polimorfismo de Nucleotídeo Único , Reação Transfusional , Transplante Homólogo , Resultado do Tratamento
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