Cargando…
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...
Autores principales: | , , , |
---|---|
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 |
_version_ | 1783609785309986816 |
---|---|
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. |
format | Online Article Text |
id | pubmed-7664152 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | The African Field Epidemiology Network |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT almalkymohamedabdelkader clinicolaboratoryprofileandperforingenemutationsofpediatrichemophagocyticlymphohistiocytosiscasesafiveyearsinglecenterstudy AT salehsafaahamdyahmad clinicolaboratoryprofileandperforingenemutationsofpediatrichemophagocyticlymphohistiocytosiscasesafiveyearsinglecenterstudy AT bazemangamal clinicolaboratoryprofileandperforingenemutationsofpediatrichemophagocyticlymphohistiocytosiscasesafiveyearsinglecenterstudy AT fakhrahmedelsadek clinicolaboratoryprofileandperforingenemutationsofpediatrichemophagocyticlymphohistiocytosiscasesafiveyearsinglecenterstudy |