RESUMO
Cytochrome P450IID6 (CYP2D6) plays an important role in the hepatic metabolism of various psychotropic drugs. We detected a mutation of the CYP2D6 gene in two patients who previously had episodes of neuroleptic malignant syndrome (NMS). They were homozygous for a mutated CYP2D6J allele conferring a poor-metabolizer phenotype. Possession of this trait may contribute to susceptibility to NMS.
Assuntos
Antipsicóticos/efeitos adversos , Citocromo P-450 CYP2D6/genética , Síndrome Maligna Neuroléptica/genética , Alelos , Substituição de Aminoácidos , Antipsicóticos/farmacocinética , Citocromo P-450 CYP2D6/fisiologia , Análise Mutacional de DNA , Predisposição Genética para Doença , Homozigoto , Humanos , Inativação Metabólica/genética , Masculino , Microssomos Hepáticos/enzimologia , Pessoa de Meia-Idade , Síndrome Maligna Neuroléptica/enzimologia , Mutação PuntualRESUMO
The case of dermatomyositis complicated with cecum perforation and panniculitis occurred in a 62-year-old woman was reported. She was admitted to Keio University Hospital with a history of proximal muscular weakness, and dysphagia. Physical examination showed erythema over the face and shoulder. Serum level of muscle enzymes was remarkably increased. The diagnosis of dermatomyositis was made based on proximal muscular weakness, elevated serum level of muscle enzymes and myogenic change of electromyocardiogram. The treatment with 60 mg/day of prednisolone was started, and was a good response. However, 7 months later the disease became active again when the amount of prednisolone was reduced to 13 mg/day. Subsequently she complained of abdominal pain on the right lower quadrant. The surgical findings included peritonitis due to the perforation of the cecum and multiple ulcers of the cecum. After operation, azathioprine was added. Four years and 9 months later, she noticed skin erythema with ulceration and subcutaneous nodule. Skin biopsy indicated the findings of the panniculitis with membrano-cystic lesion. It was thought that both cecum perforation and panniculitis were caused by angiopathy which was often seen in childhood dermatomyositis.