Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis

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dc.authorid0000-0002-4551-5433
dc.authorid0000-0002-9710-8653
dc.authorid0000-0002-0476-5452
dc.authorid0000-0002-9688-5223
dc.authorid0000-0002-7129-5024
dc.authorid0000-0003-0884-2635
dc.authorid0000-0003-1513-6149
dc.authorid0000-0001-6930-7148
dc.authorid0000-0003-0037-7636
dc.authorid0000-0001-8489-7449
dc.contributor.authorNepesov, Serdar
dc.contributor.authorYaman, Yöntem
dc.contributor.authorElli, Murat
dc.contributor.authorBayram, Nihan
dc.contributor.authorÖzdilli, Kürşat
dc.contributor.authorKıykım, Ayça
dc.contributor.authorÇakır, Deniz
dc.contributor.authorKılıç, Betül
dc.contributor.authorAydın, Kürşad
dc.contributor.authorAyaz, Akif
dc.contributor.authorTelhan, Leyla
dc.contributor.authorAnak, Sema
dc.date.accessioned2022-08-08T07:54:31Z
dc.date.available2022-08-08T07:54:31Z
dc.date.issued2022
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractObjectİive: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis and appropriate treatment options for pediatric hemophagocytic lymphohistiocytosis patients. Materials and Methods: Medical records of 9 patients diagnosed with primary hemophagocytic lymphohistiocytosis between November 2013 and December 2019 were analyzed retrospectively. Clinical, genetic, and laboratory characteristics, family histories, initial complaints, physical examination findings, age at diagnosis, treatment choices, and clinical follow-up of all patients were investigated. Results: The mean age at diagnosis was 11 months (range: 1.5 months to 17 years). Genetic analysis was performed in all patients, and a disease-related mutation was detected in 8 (89%) of them. Among clinical features, 6 (66%) patients had fever, 5 (56%) had splenomegaly, 4 (44%) had lymphadenopathy, 4 (44%) had skin rash, and 4 (44%) had neurological findings. Hemophagocytosis was observed in the bone marrow samples of 6 (66%) patients. Disease remission was achieved in 7 (78%) patients. Hematopoietic stem cell transplantation was performed in 7 (78%) patients. Conclusion: Hemophagocytic lymphohistiocytosis may present with different clinical symptoms that can cause a significant diagnostic delay. The only curative treatment option in primary hemophagocytic lymphohistiocytosis patients is hematopoietic stem cell transplantation. The chemotherapy should be started as early as possible, in order to achieve a disease remission. Patients should be referred to the appropriate bone marrow transplant center for hematopoietic stem cell transplantation as soon as they reach the disease remission.
dc.identifier.citationNepesov, S., Yaman, Y., Elli, M., Bayram, N., Özdilli, K., Kıykım, A. ... Anak, S. (2022). Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis. Turkish Archives of Pediatrics, 57(4), 398-405. https://doi.org/10.5152/TurkArchPediatr.2022.21314
dc.identifier.doi10.5152/TurkArchPediatr.2022.21314
dc.identifier.endpage405
dc.identifier.issn2757-6256
dc.identifier.issue4
dc.identifier.pmid35822471
dc.identifier.scopus2-s2.0-85134804011
dc.identifier.scopusqualityN/A
dc.identifier.startpage398
dc.identifier.trdizinid534289
dc.identifier.urihttps://doi.org/10.5152/TurkArchPediatr.2022.21314
dc.identifier.urihttps://hdl.handle.net/20.500.12511/9637
dc.identifier.volume57
dc.identifier.wos000865986500005en_US
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.institutionauthorNepesov, Serdar
dc.institutionauthorYöntem, Yaman
dc.institutionauthorElli, Murat
dc.institutionauthorBayram, Nihan
dc.institutionauthorÖzdilli, Kürşat
dc.institutionauthorKılıç, Betül
dc.institutionauthorAydın, Kürşad
dc.institutionauthorAyaz, Akif
dc.institutionauthorTelhan, Leyla
dc.institutionauthorAnak, Sema
dc.language.isoen
dc.publisherAVES
dc.relation.ispartofTurkish Archives of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsAttribution-NonCommercial 4.0 International*
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/*
dc.subjectChildren
dc.subjectGenetic analysis
dc.subjectPrimary Hemophagocytic Lymphohistiocytosis
dc.titleClinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis
dc.typeArticle

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