儿童噬血细胞综合征相关基因检测的临床意义
发布时间：2018-01-21 06:42
本文关键词： 噬血细胞综合征 基因突变 临床表现 出处：《遵义医学院》2017年硕士论文 论文类型：学位论文
【摘要】：目的:了解本地区噬血细胞综合征患儿HPS相关基因突变的发生率和类型,探讨基因突变阳性和阴性患儿临床特征及与预后的关系。方法:回顾性分析2014年1月至2017年1月遵义医学院附属医院儿童血液肿瘤科住院治疗的23例遵义地区噬血细胞综合征患儿的临床资料,根据HPS基因检测结果,将患儿分为基因突变阳性组和基因突变阴性组,比较两组患儿的发病年龄、性别,临床症状、体征,各项实验室指标及预后的差异。采用SPSS19.0对数据进行统计分析,运用单样本Kolmogorov-Smirnov检验对数据进行正态性检验,Mann-Whitney U检验两组间指标进行比较;分类计数资料组间比较采用Fisher确切概率检验(样本量小于40);检验水准为P㩳0.05有统计学意义。结果:(1)56.5%(13/23)的患儿检测出原发性噬血细胞综合征的相关基因突变,基因突变检出率由高到低依次为LYST(46.2%)、UNC13D(38.5%)、ITK(30.8%)、STXBP2(15.2%)和XIAP(7.7%),未见PRF1基因突变;(2)基因突变阳性组男7例,女6例,阴性组男6例,女4例,两组患儿性别比较无统计学意义(P㧐0.05);(3)基因突变阳性组发病年龄4.12±4.68岁,阴性组5.82±4.16岁,两组患儿发病年龄比较无统计学意义(P㧐0.05);(4)基因突变阳性组出现神经系统症状2例(15.4%);阴性组出现神经系统症状4例(40%),神经系统受累例数在两组患儿比较无统计学意义(P㧐0.05);(5)基因突变阳性组EB病毒感染阳性有4例(30.8%),肺炎支原体阳性4例(30.8%);阴性组EB病毒阳性有1例(10%),肺炎支原体阳性2例(20.0%);上述指标在两组患儿比较均无统计学意义(P㧐0.05);(6)基因突变阳性组与阴性组出现外周血细胞两系减少和低白蛋白血症均为100%,基因突变阳性组NK细胞活性减低63.6%,SF升高500ug/L为92.3%,ALT升高≥40U/L为86.4%,LDH升高215 U/为92.3%,TG升高3.0mmo/L为53.8%,FIB1.5 g/L为76.9%,骨髓形态学检查见噬血现象61.5%;阴性组NK细胞活性减低80%,SF升高500ug/L为80.0%,ALT升高≥40U/L为80.0%,LDH升高215 U/L为80.0%,TG升高3.0mmo/L为40.0%,FIB1.5 g/L为60.6%,骨髓形态学检查见噬血现象40.0%,上述指标在两组患儿比较均无统计学意义(P㧐0.05);将上述指标按诊断值分层后再次比较,各项指标亦无统计学意义(P㧐0.05);(7)基因突变阳性组存活7例,死亡6例,死亡率46.2%,基因突变阴性组存活9例,死亡1例,死亡率(10%),两组患儿死亡率比较无统计学意义(P㧐0.05)。结论:(1)原发性噬血细胞综合征相关突变基因在儿童HPS中的检出率较高(56.5%),多为单基因或多基因的杂合突变,罕见纯合基因突变者;(2)本地区的HPS患儿检测到5种相关基因突变,分别是LYST、UNC13D、ITK、STXBP2和XIAP;其中LYST和UNC13D基因突变最常见,PRFI基因突变少见;(3)本研究中的部分突变基因致病意义不明确,但对存在细胞毒脱颗粒功能异常,尤其对存在家系遗传,病情进展凶猛的患儿需警惕原发性HPS可能;(4)本研究中患儿的发病年龄、性别、病情严重程度,EB病毒感染率和预后等与具有相关基因突变无关。
[Abstract]:Objective: to investigate the incidence and type of HPS related gene mutations in children with hemophagocytic syndrome. To investigate the relationship between clinical features and prognosis of children with gene mutation positive and negative. Methods:. The clinical data of 23 children with hemophagocytic syndrome in Zunyi district were retrospectively analyzed from January 2014 to January 2017 in Department of Blood Oncology, affiliated Hospital of Zunyi Medical College. According to the results of HPS gene detection, the children were divided into two groups: gene mutation positive group and gene mutation negative group. The age, sex, clinical symptoms and signs of the two groups were compared. SPSS19.0 was used to analyze the data, and single sample Kolmogorov-Smirnov test was used to test the normality of the data. The indexes of Mann-Whitney U test were compared between the two groups. The Fisher exact probability test was used to compare the classified counting data (sample size less than 40). The test level is P? Results the mutation of gene related to primary hemophagocytic syndrome was detected in 56.5% of the children with primary hemophagocytic syndrome (13 / 23). The detection rate of gene mutation from high to low was as follows: LYST 46.2 and UNC13D5 / 38.5ITK 30.8). STXBP215.2) and XIAP 7.7G, no mutation of PRF1 gene was found. 2) there were 7 males, 6 females, 6 males and 4 females in the gene mutation positive group. There was no significant difference in sex between the two groups. The age of onset was 4.12 卤4.68 years in the positive group and 5.82 卤4.16 years in the negative group. 0.05; (4) there were 2 cases with nervous system symptoms in the positive group of gene mutation. In the negative group, there were 4 cases with nervous system symptoms. There were no significant differences between the two groups in the number of cases of nervous system involvement in the two groups. 0.05; 5) Epstein-Barr virus (EBV) infection was found in 4 cases of positive mutation and mycoplasma pneumoniae was found in 4 cases (30.8%) and mycoplasma pneumoniae in 4 cases (30.8%). In negative group, 1 case was positive for EB virus and 2 cases were positive for Mycoplasma pneumoniae. There was no significant difference in the above indexes between the two groups. 0.05; (6) the number of peripheral blood cells decreased and hypoalbuminemia in both positive and negative groups were 100, and NK cell activity decreased by 63.6% in positive mutation group. The elevation of SF by 500ugr / L was 92.3U / L, the elevation of alt 鈮，
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