Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study.
| Autor: | Almalky MA; Pediatric Department, Faculty of Medicine, Zagazig University, Sharkia, Egypt., Saleh SHA; Pediatric Department, Faculty of Medicine, Zagazig University, Sharkia, Egypt., Baz EG; Pediatric Department, Faculty of Medicine, Zagazig University, Sharkia, Egypt., Fakhr AE; Microbiology and Immunology Department, Faculty of Medicine, Zagazig University, Sharkia, Egypt.; Pathology Laboratory and Blood Bank, International Medical Center, Jeddah, Saudi Arabia. |
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| Jazyk: | angličtina |
| Zdroj: | The Pan African medical journal [Pan Afr Med J] 2020 Aug 27; Vol. 36, pp. 354. Date of Electronic Publication: 2020 Aug 27 (Print Publication: 2020). |
| DOI: | 10.11604/pamj.2020.36.354.25079 |
| Abstrakt: | Introduction: hemophagocytic lymphohistiocytosis (HLH) is an immunological disease characterized by hemophagocytosis of blood cells and proliferation of T-cells and histiocytes in the spleen and bone marrow then infiltration into body organs. Familial HLH (FHL) is a fatal disorder and determining gene mutations is a good guide for predicting the prognosis and choosing treatment options. This study aimed to illustrate the clinical, laboratory characteristics, including perforin gene mutation screening, treatment and survival outcome of pediatric HLH patients. Methods: we conducted this cross-sectional study on pediatric patients who were diagnosed with HLH using the revised HLH-2004 criteria, from January 2014 to February 2019 at Zagazig University Children's Hospital, Egypt. We collected demographic, clinical and laboratory data and screened for the presence of mutations in perforin (PRF1) gene by polymerase chain reaction (PCR) amplification. We treated the patients according to HLH-2004 treatment protocol and documented their survival outcome. Results: the total number of cases were 18; eight males and ten females, the age range was between three months and 12 years. Of the eight HLH-2004 diagnostic criteria, all patients met at least five criteria. We detected PRF1 gene mutation in 38.9% (7 patients) with nine previously unreported mutations. Sixteen patients (88.9%) received HLH-2004 treatment protocol and the remaining two patients died before initiation of treatment. The overall mortality was 72.2% (13 patients). Conclusion: our results increase the awareness of clinical and laboratory characterizations of pediatric HLH patients and the prevalence of PRF1 gene mutations among those patients. Competing Interests: The authors declare no competing interests. (Copyright: Mohamed Abdelkader Almalky et al.) |
| Databáze: | MEDLINE |
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