RESUMEN

We describe 4 cases of lysinuric protein intolerance, which all fulfilled the diagnostic criteria for hemophagocytic lymphohistiocytosis. Mature histiocytes and neutrophil precursors participated in hemophagocytosis in the bone marrow. Moreover, serum levels of ferritin and lactate dehydrogenase were elevated, hypercytokinemia was present, and soluble interleukin-2 receptor levels were increased up to 18.6-fold. The diagnosis of lysinuric protein intolerance should therefore be considered in any patient presenting with hemophagocytic lymphohistiocytosis.

Asunto(s)

Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Histiocitosis de Células no Langerhans/complicaciones , Histiocitosis de Células no Langerhans/diagnóstico , Errores Innatos del Metabolismo de los Aminoácidos/inmunología , Arginina/metabolismo , Células de la Médula Ósea , Niño , Preescolar , Diagnóstico Diferencial , Citometría de Flujo , Histiocitosis de Células no Langerhans/inmunología , Humanos , Lactante , Subgrupos Linfocitarios , Lisina/metabolismo , Ornitina/metabolismo