兒童噬血細胞綜合征臨床及基因突變篩查研究
發(fā)布時間：2018-11-20 09:21
【摘要】：目的研究SH2D1A、XIAP、PRF1、UNC13D、STX11、STXBP2、RAB27A、AP3B1、LYST及ITK等10種兒童噬血細胞綜合征(HLH)相關突變基因在HLH分布情況及相關臨床特點。方法收集2012年7月-2015年11月期間按照國際組織細胞協(xié)會HLH-2004標準確診為HLH的37例患兒的血液樣本并行基因測序,對測序結(jié)果進行突變位點分析。結(jié)果37名HLH患兒的中位年齡為2.6歲,檢出基因突變組(22例)與未檢出基因突變組(15例)中位年齡分別為2.09歲、2.67歲,差異無統(tǒng)計學意義(P0.05)。22例患兒檢測出基因突變,均為雜合突變未見純合突變。UNC13D突變例數(shù)最多(50%)以內(nèi)含子剪切位點突變?yōu)橹?38%),同時存在錯義突變和移碼突變。多位點突變與單一位點突變、無突變組在發(fā)病年齡、粒細胞及血小板減少程度、NK細胞數(shù)量上無明顯差異。70.3%HLH患兒同時合并有EB病毒感染。4例復發(fā)、1例初診時死亡患兒均來源于基因突變組,其中4例存在EB病毒感染,1例疾病初期無EB病毒感染,而復發(fā)時檢測出EB病毒陽性。結(jié)論 UNC13D突變在中國人群的HLH較多,基因突變與患兒年齡、病情嚴重程度無明顯相關性。
[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.
【作者單位】： 華中科技大學同濟醫(yī)學院附屬武漢兒童醫(yī)院血液腫瘤科;
【基金】：武漢市衛(wèi)生和計劃生育委員會科研項目(No.WX16D19)
【分類號】：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.
【作者單位】： 華中科技大學同濟醫(yī)學院附屬武漢兒童醫(yī)院血液腫瘤科;
【基金】：武漢市衛(wèi)生和計劃生育委員會科研項目(No.WX16D19)
【分類號】：R725.5
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