RESUMO
Chronic granulomatous disease (CGD) comprises a heterogeneous group of diseases that are caused by defect in the superoxide-producing NADPH oxidase of neutrophils. This defect impairs the intracellular killing of microorganisms. Typical manifestations are recurrent bacterial or mycotic infections affecting the lungs, skin, lymph nodes and gastrointestinal tract (liver). Chronic granulomatous disease could be diagnosed on the basis of the anamnesis, clinical picture and results of granulocyte function tests showing impaired phagocytic activity (NBT tests, RDH test and a deficit of superoxide production). Typically symptoms of disease occur in the first years of live, leading often to death in the 2. or 3. decade. Below we present a patient, in whom diagnosis of the CGD was established at the age of 42.
Assuntos
Doença Granulomatosa Crônica/diagnóstico por imagem , Superóxidos/metabolismo , Adulto , Feminino , Humanos , NADPH Oxidases/metabolismo , Neutrófilos/metabolismo , RadiografiaRESUMO
A 44-year old woman hospitalized because of chest pain, pleuropneumonic lesions and high temperature is described. Disease of connective tissue was suspected because of symptoms (fever, chest pain) aggravated despite antibioticotherapy. During diagnostic procedures hypoxemia was observed and thrombotic lesions were discovered in the right popliteal vein and in numerous pulmonary arteries. Pulmonary thrombosis was recognised and patient was admitted to the Intensive Care Unit. Anti-ds.-DNA antibodies were not found but anticardiolipin (aCL) antibodies and lupus anticoagulant (LA) were present in high concentrations in serum. We didn't find all symptoms required for SLE diagnosis. Anticoagulant treatment was effective and we recognised primary antiphospholipid syndrome (APS). It is a less frequent syndrome than "secondary APS" connected with systemic lupus erythematosus. Patient should be treated with anticoagulant drugs and observed whether symptoms of SLE would appear.