engleski

Familial hemophagocytic lymphohistiocytosis type 3 due to UNC13D mutation

Familial haemophagocytic lymphohistiocytosos (FHLH) is a rare but potentially fatal disease characterized by nonmalignant aggresive proliferation of activated macrophages, lymphocytes and histiocytes that usually appears in infancy. Chemotherapy and allogenic hematopoietic stem cell transplantation are needed. We describe a 3- month old male infant with no positive family history for FHLH in whom the diagnosis was made according to diagnostic guidelines for hemophagocytic lymphohistiocytosis (HLH 2004 protocol). These include fever, splenomegaly, cytopenias (thrombocytopenia, anemia, leucopenia), hypertriglycedemia, hipofibrinogenemia, hyperferritinemia, and hemophagocytosisin bone marrow and central nervous system disease. Underlying conditions such as coexisting infections, malignant disease, metabolic disease sere all excluded

lymphohistiocytosis; UNC13D mutation

nije evidentirano