RESUMEN
Wiskott-Aldrich syndrome (WAS) is caused by a mutation in the WAS gene, and it is clinically characterized by the triad of thrombocytopenia, eczema and immunodeficiency. X-linked thrombocytopenia (XLT), which is a clinically mild form of WAS, is also caused by a WAS gene mutation. Patients with WAS/XLT sometimes also have autoimmune diseases such as IgA nephropathy. Progression of IgA nephropathy may lead to chronic renal failure with a poor prognosis. Here, we describe an XLT patient who also had IgA nephropathy. The patient underwent bone marrow transplantation (BMT) because of an associated-lymphoproliferative disorder, and clinical and histological improvement in his IgA nephropathy was observed after BMT. The amount of galactose-deficient IgA in the patient's serum markedly decreased after BMT. Therefore, immunological reconstitution might improve autoimmune diseases in patients with WAS/XLT.
Asunto(s)
Trasplante de Médula Ósea , Enfermedades Genéticas Ligadas al Cromosoma X/complicaciones , Enfermedades Genéticas Ligadas al Cromosoma X/terapia , Glomerulonefritis por IGA/complicaciones , Glomerulonefritis por IGA/terapia , Trombocitopenia/complicaciones , Trombocitopenia/terapia , Biopsia , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Glomerulonefritis por IGA/diagnóstico , Humanos , Inmunoglobulina A/sangre , Riñón/patología , Riñón/ultraestructura , Masculino , Trombocitopenia/diagnóstico , Trasplante Homólogo , Resultado del Tratamiento , Adulto JovenRESUMEN
Giardiasis is a common cause of diarrhea in undeveloped countries, but is very rare in developed countries. A patient with acute myelogenous leukemia and retinoblastoma presented with a high fever and severe watery diarrhea during induction chemotherapy. On microscopy, cysts were seen in her stool, suggesting Giardia intestinalis, which was confirmed on polymerase chain reaction (PCR). G. intestinalis was also detected in the patient's asymptomatic parents, who may have transmitted it to the patient. Giardiasis should be tested for in patients with severe and persistent diarrhea during chemotherapy, when other etiologies have been excluded. PCR used to amplify the DNA of G. intestinalis is rapid and sensitive.