儿童噬血细胞综合征临床及基因突变筛查研究
发布时间：2018-11-20 09:21
【摘要】：目的研究SH2D1A、XIAP、PRF1、UNC13D、STX11、STXBP2、RAB27A、AP3B1、LYST及ITK等10种儿童噬血细胞综合征(HLH)相关突变基因在HLH分布情况及相关临床特点。方法收集2012年7月-2015年11月期间按照国际组织细胞协会HLH-2004标准确诊为HLH的37例患儿的血液样本并行基因测序,对测序结果进行突变位点分析。结果37名HLH患儿的中位年龄为2.6岁,检出基因突变组(22例)与未检出基因突变组(15例)中位年龄分别为2.09岁、2.67岁,差异无统计学意义(P0.05)。22例患儿检测出基因突变,均为杂合突变未见纯合突变。UNC13D突变例数最多(50%)以内含子剪切位点突变为主(38%),同时存在错义突变和移码突变。多位点突变与单一位点突变、无突变组在发病年龄、粒细胞及血小板减少程度、NK细胞数量上无明显差异。70.3%HLH患儿同时合并有EB病毒感染。4例复发、1例初诊时死亡患儿均来源于基因突变组,其中4例存在EB病毒感染,1例疾病初期无EB病毒感染,而复发时检测出EB病毒阳性。结论 UNC13D突变在中国人群的HLH较多,基因突变与患儿年龄、病情严重程度无明显相关性。
[Abstract]:Objective to study the distribution and clinical characteristics of 10 (HLH) related mutation genes of SH2D1A,XIAP,PRF1,UNC13D,STX11,STXBP2,RAB27A,AP3B1,LYST and ITK in hemophagocytic syndrome in children. Methods from July 2012 to November 2015, the blood samples of 37 children with HLH diagnosed according to the International Organization Cell Association (HLH-2004) criteria were collected and sequenced, and the mutation loci were analyzed. Results the median age of 37 children with HLH was 2.6 years old. The median age of gene mutation group (22 cases) and undetected mutation group (15 cases) were 2.09 years old and 2.67 years old, respectively. There was no significant difference (P0.05). 22 cases of children were detected gene mutations, all heterozygous mutations were not homozygous. The most UNC13D mutations (50%) were intron shear site mutations (38%). At the same time, there are missense mutations and frameshift mutations. There was no significant difference in the age of onset, granulocyte and thrombocytopenia, and the number of NK cells between multilocus mutation and single locus mutation. There were 4 recurrent cases of EB virus infection in children with 70.3%HLH. One patient died from gene mutation group, 4 of them had EB virus infection, 1 patient had no EB virus infection at the beginning of the disease, but EB virus was positive at the time of recurrence. Conclusion UNC13D mutation is more common in HLH in Chinese population. There is no significant correlation between gene mutation and age and severity of illness.
【作者单位】： 华中科技大学同济医学院附属武汉儿童医院血液肿瘤科;
【基金】：武汉市卫生和计划生育委员会科研项目(No.WX16D19)
【分类号】：R725.5
[Abstract]:Objective to study the distribution and clinical characteristics of 10 (HLH) related mutation genes of SH2D1A,XIAP,PRF1,UNC13D,STX11,STXBP2,RAB27A,AP3B1,LYST and ITK in hemophagocytic syndrome in children. Methods from July 2012 to November 2015, the blood samples of 37 children with HLH diagnosed according to the International Organization Cell Association (HLH-2004) criteria were collected and sequenced, and the mutation loci were analyzed. Results the median age of 37 children with HLH was 2.6 years old. The median age of gene mutation group (22 cases) and undetected mutation group (15 cases) were 2.09 years old and 2.67 years old, respectively. There was no significant difference (P0.05). 22 cases of children were detected gene mutations, all heterozygous mutations were not homozygous. The most UNC13D mutations (50%) were intron shear site mutations (38%). At the same time, there are missense mutations and frameshift mutations. There was no significant difference in the age of onset, granulocyte and thrombocytopenia, and the number of NK cells between multilocus mutation and single locus mutation. There were 4 recurrent cases of EB virus infection in children with 70.3%HLH. One patient died from gene mutation group, 4 of them had EB virus infection, 1 patient had no EB virus infection at the beginning of the disease, but EB virus was positive at the time of recurrence. Conclusion UNC13D mutation is more common in HLH in Chinese population. There is no significant correlation between gene mutation and age and severity of illness.
【作者单位】： 华中科技大学同济医学院附属武汉儿童医院血液肿瘤科;
【基金】：武汉市卫生和计划生育委员会科研项目(No.WX16D19)
【分类号】：R725.5
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