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Familial Hemophagocytic Lymphohistiocytosis in a 6-Week-Old Male Infant

Gordana Jakovljević
Ika Kardum-Skelin
Srđan Rogošić
Srđana Čulić
Jasminka Stepan
Alenka Gagro
Ivančica Škarić
Lili Mikecin
Aleksandra Bonevski
Ingeborg Barišić
Melita Nakić

Puni tekst: engleski, pdf (97 KB) str. 631-634 preuzimanja: 550* citiraj
APA 6th Edition
Jakovljević, G., Kardum-Skelin, I., Rogošić, S., Čulić, S., Stepan, J., Gagro, A., ... Nakić, M. (2010). Familial Hemophagocytic Lymphohistiocytosis in a 6-Week-Old Male Infant. Collegium antropologicum, 34 (2), 631-634. Preuzeto s https://hrcak.srce.hr/56502
MLA 8th Edition
Jakovljević, Gordana, et al. "Familial Hemophagocytic Lymphohistiocytosis in a 6-Week-Old Male Infant." Collegium antropologicum, vol. 34, br. 2, 2010, str. 631-634. https://hrcak.srce.hr/56502. Citirano 29.07.2021.
Chicago 17th Edition
Jakovljević, Gordana, Ika Kardum-Skelin, Srđan Rogošić, Srđana Čulić, Jasminka Stepan, Alenka Gagro, Ivančica Škarić, et al. "Familial Hemophagocytic Lymphohistiocytosis in a 6-Week-Old Male Infant." Collegium antropologicum 34, br. 2 (2010): 631-634. https://hrcak.srce.hr/56502
Harvard
Jakovljević, G., et al. (2010). 'Familial Hemophagocytic Lymphohistiocytosis in a 6-Week-Old Male Infant', Collegium antropologicum, 34(2), str. 631-634. Preuzeto s: https://hrcak.srce.hr/56502 (Datum pristupa: 29.07.2021.)
Vancouver
Jakovljević G, Kardum-Skelin I, Rogošić S, Čulić S, Stepan J, Gagro A i sur. Familial Hemophagocytic Lymphohistiocytosis in a 6-Week-Old Male Infant. Collegium antropologicum [Internet]. 2010 [pristupljeno 29.07.2021.];34(2):631-634. Dostupno na: https://hrcak.srce.hr/56502
IEEE
G. Jakovljević, et al., "Familial Hemophagocytic Lymphohistiocytosis in a 6-Week-Old Male Infant", Collegium antropologicum, vol.34, br. 2, str. 631-634, 2010. [Online]. Dostupno na: https://hrcak.srce.hr/56502. [Citirano: 29.07.2021.]

Sažetak
Familial hemophagocytic lymphohistiocytosis (FLH) is an autosomal recessively inherited multisystem disease. This defect in cellular cytotoxicity is a life threatening condition characterized by fever, rash, splenomegaly, cytopenias and neurologic manifestations. PRF1, UNC13D and STX11 gene defects underlie in about 40–50% of primary cases. Chemoimmunotherapy followed by hematopoietic stem cell transplantation improved disease outcome. We report a case of a 6-week-old boy who presented with a fever, diffuse rash, disseminated intravascular coagulation, hypofibrinogenemia, hypertrigliceridemia, hepatosplenomegaly, leukocytosis with 90% of lymphocytes, granulocytopenia, anemia, trombocytopenia, hyperferritinemia and pathological findings in cerebrospinal fluid. The patient had decreased frequency of NK cells and low NK cell activity in peripheral blood. Bone marrow aspiration analysis showed degenerative changes of histocyte cells, with preserved cytophages (lymphophages and erythrophages) consistent with hematophagocytic syndrome. Given that the molecular diagnosis of the known mutations in genes PRF1 and UNC13D showed a mutation in UNC13D, the diagnosis of familial hemophagocytic lymphohistiocytosis subtype 3 was established. HLH-2004 chemotherapy protocol was performed and partial remission with residual central nervous system disease was achieved. Hematopoietic stem cell transplantation was successfully performed with an unrelated HLA-matched donor. Familiar HLH is generaly a progressive and fatal disease. Early diagnosis with molecular genetic analysis and chemoimmunotherapy followed by hematopoietic stem-cell transplantation is the best approach.

Ključne riječi
familial hemophagocytic lymphohistiocytosis; UNC13D mutation; HLH-2004

Hrčak ID: 56502

URI
https://hrcak.srce.hr/56502

Posjeta: 902 *