RESUMO
An 11-year-old girl with a calpain-3 gene (CAPN-3) mutation and eosinophilic myositis on muscle biopsy had high serum CK levels and eosinophil counts which showed spontaneous fluctuations. After commencement of immunosuppressive therapy reciprocal changes occurred in response to alterations in doses of the medications. Subacutely evolving and spreading muscle weakness developed during tapering of the immunosuppressive medications. These observations suggest that either the occurrence of eosinophilic myositis or the withdrawal of the immunosuppressive treatment may have accelerated the clinical course of the calpainopathy in this case. The positive effect of immunosuppressive therapy might have implications for the management of calpainopathy with an inflammatory component.
Assuntos
Calpaína/genética , Síndrome de Eosinofilia-Mialgia/imunologia , Terapia de Imunossupressão/métodos , Proteínas Musculares/genética , Músculo Esquelético/imunologia , Distrofia Muscular do Cíngulo dos Membros/imunologia , Miosite/imunologia , Azatioprina/administração & dosagem , Azatioprina/efeitos adversos , Criança , Creatina Quinase/análise , Creatina Quinase/sangue , Progressão da Doença , Relação Dose-Resposta a Droga , Quimioterapia Combinada , Síndrome de Eosinofilia-Mialgia/complicações , Síndrome de Eosinofilia-Mialgia/tratamento farmacológico , Eosinófilos/patologia , Feminino , Predisposição Genética para Doença/genética , Humanos , Imunossupressores/administração & dosagem , Imunossupressores/efeitos adversos , Contagem de Leucócitos , Metilfenazônio Metossulfato/administração & dosagem , Metilfenazônio Metossulfato/efeitos adversos , Debilidade Muscular/etiologia , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Distrofia Muscular do Cíngulo dos Membros/tratamento farmacológico , Distrofia Muscular do Cíngulo dos Membros/patologia , Miosite/tratamento farmacológico , Miosite/patologia , Prednisolona/administração & dosagem , Prednisolona/efeitos adversos , Resultado do TratamentoRESUMO
Red blood cells in iron deficiency anemia (IDA) have a decreased activity of essential antioxidant enzymes. The present study examined the effect of in vitro exposure to oxidative agents in IDA cells and their recovery capacity. Red cells of 26 IDA patients and 10 healthy subjects were examined. Cells of IDA patients had higher levels of reduced glutathione (GSH), and normal methemoglobin and malonyldialdehyde (MDA) levels. Exposure to butyl hydroperoxide revealed a dose-dependent sensitivity in IDA cells, with extensive GSH depletion and increased MDA levels. These changes were partially reversible by incubation with dithiothreitol. Exposure to phenazine methosulfate, to produce intracellular superoxide ions, resulted in moderate GSH depletion and methemoglobin production. IDA cells were more sensitive than control cells to high concentrations of this substance. This effect was further augmented by preincubation with a superoxide dismutase inhibitor. Our data demonstrate that IDA cells are more susceptible to oxidation but have good capacity for recovery.