Naslov
Familial hemophagocytic lymphohistiocytosis type 3 due to UNC13D mutation

Autori
Jakovljević, Gordana ; Gagro, Alemka, Barišić, Ingeborg ; Stepan, Jasminka ; Bonevski, Aleksandra ; Rimac, Milan ; Mikecin, Lili ; Škarić, Ivančica ; Nakić, Melita

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Paediatria Croatica Vol 53. Suppl. 2 / - Zagreb, 2009, 42-42

Skup
8 th Balkan Meeting on Human Genetics

Mjesto i datum
Zagreb, Hrvatska, 14.05.2009. - 15.05.2009

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
lymphohistiocytosis; UNC13D mutation

Sažetak
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

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA