Clinical features of hemophagocytic syndrome in children and significance of gene detection
10. 3760／cma. j. issn. 2095﹣428Ⅹ. 2019. 06. 012
- VernacularTitle:儿童噬血细胞综合征临床特征及基因检测的意义
- Author:
Lihuan SHI
1
;
Liang TIAN
;
Shan HUANG
;
Ming?a GUO
;
Wei LIU
Author Information
1. 郑州大学附属儿童医院
- Keywords:
Hemophagocytic syndrome;
Clinical characteristics;
Gene mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2019;34(6):449-452
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical features of hemophagocytic syndrome in children and the signifi﹣cance of gene detection. Methods TWenty－tWo pediatric patients diagnosed as hemophagocytic syndrome since 2004 clinical and laboratory criteria Were enrolled in Children＇s Hospital Affiliated to Zhengzhou University from January 2014 to January 2016. The clinical data of patients Were analyzed,and the genes associated With hemophagocytic syn﹣drome Were detected. The clinical biochemical indicators Were compared betWeen mutation group and non －mutation group. Results TWenty－tWo cases of patients(3 months to 12 years)Were enrolled,including 10 males and 12 fe﹣males,and the proportion of children over 5 years old accounted for the highest proportion,accounting for 50%,and all of them had fever,liver,spleen and lymph node enlargement. The main test results Were as folloWs:peripheral blood cells decreased in 6 cases( 27. 27%),hemophagocytic phenomena presented in bone marroW smears in 12 cases (54. 55%),abnormal liver function in 18 cases(81. 82%),and loW serum albumin in 22 cases(100. 00%). High serum ferritin levels Were detected in 20 cases(90. 91%);the detection of natural killer(NK)cell activity shoWed nor﹣mal activity( active ＞ 15%) in 7 cases( 31. 82%),and decreased activity( activity ≤ 15%) in 15 cases (68. 18%). The genes associated With hemophagocytic syndrome Were detected in 22 cases of patients,and 12 of them Were associated With mutations related to hemophagocytic syndrome,accounting for 54. 55%. LYST,ITK and UNC13D gene Were common. There Was no statistical difference in Which ages of onset,symptoms of the nervous system,and labo﹣ratory data of leukocyte count,red blood cell count,hemoglobin,platelet count,NK cell activities,prognosis,hemophago﹣cytic phenomena shoWed in bone marroW smears,alanine aminotransferase,albumin,triglyceride,ferritin and fibrinogen betWeen mutation group and non－mutation group(all P＞0. 05). Conclusions Pediatric hemophagocytic syndrome is mostly accompanied by fever,liver,spleen and lymph node enlargement,and most of them are accompanied by gene mu﹣tations. LYST,ITK and UNC13D gene are commonly seen. But there is no significant correlation betWeen gene mutation and general condition,biochemical index and severity of the disease.
