dc.contributor.author | Beken, Burcin | |
dc.contributor.author | Aytac, Selin | |
dc.contributor.author | Balta, Gunay | |
dc.contributor.author | Kuskonmaz, Baris | |
dc.contributor.author | Uckan, Duygu | |
dc.contributor.author | Unal, Sule | |
dc.contributor.author | Cetin, Mualla | |
dc.contributor.author | Gumruk, Fatma | |
dc.date.accessioned | 2019-12-10T10:51:20Z | |
dc.date.available | 2019-12-10T10:51:20Z | |
dc.date.issued | 2018 | |
dc.identifier.issn | 0390-6078 | |
dc.identifier.uri | https://doi.org/10.3324/haematol.2017.178038 | |
dc.identifier.uri | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792267/ | |
dc.identifier.uri | http://hdl.handle.net/11655/14441 | |
dc.description.abstract | Familial hemophagocytic lymphohistiocytosis is an autosomal recessive, life-threatening condition characterized by defective immune response. A retrospective analysis was performed on 57 patients diagnosed with familial hemophagocytic lymphohistiocytosis at Hacettepe University Pediatric Hematology Department, Ankara, Turkey. Mutation analysis was performed on 37 patients, and of these: 11 had UNC13D, 10 had PRF1 and 3 had STX11 gene mutation. Of these patients, 44% were found to have central nervous system involvement on admission and spinal cord involvement was also seen in 5 patients. Remission was achieved in 24 patients with the treatment, in a median time of 76 days (min-max: 15–705 days). Time to remission was prolonged 3.1 times in patients with a ferritin level 1500 mg/dL or more. When patients were grouped according to age [Group 1 (≤ 2 years), Group 2 (>2 years)]; patients in Group 1 had higher ferritin and aspartate aminotransferase levels but lower fibrinogen levels. The 5-year survival rate was also lower in Group 1. When patients in Group 1 were divided into two sub-groups according to hepatic involvement, the 5-year survival rate of patients who had hepatic involvement was significantly lower than those patients without hepatic involvement (0.7%, 27%, respectively) (P=0.002). The 5-year survival rate of patients who underwent hematopoietic stem cell transplantation was significantly higher than the patients who didn’t (44%, 16%, respectively) (P=0.02). In conclusion, age two years and under, ferritin level above 1500 mg/dL, spinal cord or hepatic involvement should be considered as poor prognostic factors in familial hemophagocytic lymphohistiocytosis. | |
dc.relation.isversionof | 10.3324/haematol.2017.178038 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.title | The Clinical and Laboratory Evaluation of Familial Hemophagocytic Lymphohistiocytosis and the Importance of Hepatic and Spinal Cord Involvement: A Single Center Experience | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.relation.journal | Haematologica | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 103 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | 231 | |
dc.identifier.endpage | 236 | |
dc.description.index | PubMed | |
dc.description.index | WoS | |
dc.description.index | Scopus | |