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Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study

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 ge...

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Autores principales: Almalky, Mohamed Abdelkader, Saleh, Safaa Hamdy Ahmad, Baz, Eman Gamal, Fakhr, Ahmed Elsadek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664152/
https://www.ncbi.nlm.nih.gov/pubmed/33224420
http://dx.doi.org/10.11604/pamj.2020.36.354.25079
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author Almalky, Mohamed Abdelkader
Saleh, Safaa Hamdy Ahmad
Baz, Eman Gamal
Fakhr, Ahmed Elsadek
author_facet Almalky, Mohamed Abdelkader
Saleh, Safaa Hamdy Ahmad
Baz, Eman Gamal
Fakhr, Ahmed Elsadek
author_sort Almalky, Mohamed Abdelkader
collection PubMed
description 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.
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spelling pubmed-76641522020-11-20 Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study Almalky, Mohamed Abdelkader Saleh, Safaa Hamdy Ahmad Baz, Eman Gamal Fakhr, Ahmed Elsadek Pan Afr Med J Research 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. The African Field Epidemiology Network 2020-08-27 /pmc/articles/PMC7664152/ /pubmed/33224420 http://dx.doi.org/10.11604/pamj.2020.36.354.25079 Text en Copyright: Mohamed Abdelkader Almalky et al. https://creativecommons.org/licenses/by/4.0 The Pan African Medical Journal (ISSN: 1937-8688). This is an Open Access article distributed under the terms of the Creative Commons Attribution International 4.0 License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Almalky, Mohamed Abdelkader
Saleh, Safaa Hamdy Ahmad
Baz, Eman Gamal
Fakhr, Ahmed Elsadek
Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study
title Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study
title_full Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study
title_fullStr Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study
title_full_unstemmed Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study
title_short Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study
title_sort clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664152/
https://www.ncbi.nlm.nih.gov/pubmed/33224420
http://dx.doi.org/10.11604/pamj.2020.36.354.25079
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