RESUMO
Entre las etiologías de anemias en la infancia, las citopatías mitocondriales son poco frecuentes. El síndrome de Pearson se diagnostica principalmente durante etapas iniciales de la vida y es caracterizado por anemia sideroblástica refractaria con vacuolización de células progenitoras en la médula ósea, disfunción del páncreas exocrino y variables alteraciones neurológicas, hepáticas, renales y endocrinas. En el siguiente informe reportamos un nuevo caso de lactante mayor femenino de 14 meses de edad, evaluada de forma multicéntrica con diagnostico clínico y molecular de síndrome de Pearson, con la deleción común de 4.977 pares de bases del ADN mitocondrial. Esta entidad ha sido asociada a diversos fenotipos dentro del amplio espectro clínico de las enfermedades mitocondriales.
Among the etiologies of anemia in the infancy, the mitochondrial cytopathies are infrequent. Pearson syndrome is diagnosed principally during the initial stages of life and it is characterized by refractory sideroblastic anemia with vacuolization of marrow progenitor cells, exocrine pancreatic dysfunction and variable neurologic, hepatic, renal and endocrine failures. We report the case of a 14 month-old girl evaluated by a multicentric study, with clinic and molecular diagnosis of Pearson syndrome, with the 4,977-base pair common deletion of mitochondrial DNA. This entity has been associated to diverse phenotypes within the broad clinical spectrum of mitochondrial disease.
Assuntos
Feminino , Humanos , Lactente , Anemia Sideroblástica , Doenças Mitocondriais , Anemia Sideroblástica/sangue , Anemia Sideroblástica/diagnóstico , Anemia Sideroblástica/genética , DNA Mitocondrial/genética , Diarreia Infantil/etiologia , Insuficiência Pancreática Exócrina/etiologia , Insuficiência Pancreática Exócrina/genética , Evolução Fatal , Hipopotassemia/etiologia , Doenças Mitocondriais/sangue , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/genética , Fenótipo , Encaminhamento e Consulta , Análise de Sequência de DNA , Deleção de SequênciaRESUMO
Myelodysplasia, characterized by varied reductions of peripheral blood elements with normal or hypercellular bone marrow, is reltively frequent among older patients and may evolve to acute leukemia. We reviewed findings in 35 patients whon, according to the FAB classification were distributed as follows: simple refractory anemia (RA) 34%, sideroblastic refractory anemia (SRA) 14%, refractory anemia with excess blast forms (RAEB) 31%, chromic myelomonocytic leukemia (CMML) 12% and refractory anemia eith excess blast forms in transformation (RAEBT 9%). Cytogenetic studies performed in 16 patients were abnormal in 5(31%), al among patients with poor prognosis forms of the disorder. All patients had anemia; thrombopenia and neutropenia were more frequent in subtypes RAEB, CMML and RAEBT). Mean survival rate was 30 months, significantly greater in RA and SRA comapred to the other groups. Infections and development of acute leukemia were the causes of death
Assuntos
Adulto , Pessoa de Meia-Idade , Humanos , Masculino , Feminino , Defeitos do Tubo Neural/classificação , Anemia Refratária/diagnóstico , Anemia Refratária com Excesso de Blastos/diagnóstico , Anemia Sideroblástica/diagnóstico , Leucemia Mielomonocítica Crônica/diagnósticoRESUMO
Iron loading anaemias are characterized by anaemia, high serum iron, transferrin saturation and ferritin values, and haemosiderin deposits in parenchymal cells and reticuloendothelial tissue with or without organ dysfunction. Sideroblastic anaemias and congenital dyserythropoietic anaemias (CDA) are important types of iron loading anaemias. Two cases of sideroblastic anaemia and five cases of CDA type I are presented as prototypes of iron loading anaemias. Increased gastrointestinal absorption of iron remains the main mechanism of iron loading in these anaemias. Phlebotomy can be used to reduce the iron load in those with mild or moderate anaemia, whereas desferrioxamine can be used to chelate excessive iron in all cases irrespective of severity of anaemia.