| 儿童遗传性骨髓衰竭综合征诊断方法探讨 |
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| 引用本文： | 刘嵘,师晓东,王天有,刘子勤,李君惠,胡涛,张蕾,曹静,范玮,梁超,黄士昂. 儿童遗传性骨髓衰竭综合征诊断方法探讨[J]. 中国小儿血液与肿瘤杂志, 2011, 16(2) |
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| 作者姓名： | 刘嵘 师晓东 王天有 刘子勤 李君惠 胡涛 张蕾 曹静 范玮 梁超 黄士昂 |
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| 作者单位： | 1. 首都儿科研究所附属儿童医院血液科,北京,100020
2. 北京海思特临床研究所,100044 |
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| 摘 要： | 目的探讨遗传性骨髓衰竭综合征(IBMFS)的诊断方法。方法对6例IBMFS患儿的临床表现、体征、血常规、骨髓形态学、染色体核型分析、染色体断裂、骨髓造血干细胞培养、胰腺外分泌功能、内分泌激素检测、尿筛查、叶酸、维生素B12定量、血红蛋白F、细胞免疫/体液免疫、骨骼X线检查,以及其中4例行特定基因扩增及测序进行分析。结果 6例患儿均以一系或二系病态造血为突出特点,伴持续高胎儿血红蛋白血症起病,均表现生长迟滞、矮小,骨骼异常、皮肤、黏膜改变亦较为突出,部分病例合并内分泌疾病、神经系统异常。4例克隆出IBMFS的关键致病基因。结论完整的病史、详尽的体格检查可以为IBMFS的临床诊断提供重要线索。特定的基因检测有助于早期诊断。
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| 关 键 词： | 遗传性骨髓衰竭综合征 临床特征 基因分析 |
Clinical Analysis of inherited bone marrow failure syndromes |
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| LIU Rong,SHI Xiaodong,WANG Tianyou,LIU Ziqin,LI Junhui,HU Tao,ZHANG Lei,CAO Jing,FAN Wei,LIANG Chao,HUANG Shiang. Clinical Analysis of inherited bone marrow failure syndromes[J]. Journal of China Pediatric Blood and Cancer, 2011, 16(2) |
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| Authors: | LIU Rong SHI Xiaodong WANG Tianyou LIU Ziqin LI Junhui HU Tao ZHANG Lei CAO Jing FAN Wei LIANG Chao HUANG Shiang |
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| Affiliation: | LIU Rong1,SHI Xiaodong1,WANG Tianyou1,LIU Ziqin1,LI Junhui1,HU Tao1,ZHANG Lei1,CAO Jing1,FAN Wei1,LIANG Chao2,HUANG Shiang2.1.Capital Institute of Pediatrics,Beijing 100020,China,2.Hightrust Diagnostics,Beijing 100044 |
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| Abstract: | Objective To identify the clinical diagnosis of inherited bone marrow failure syndromes(IBMFS).Methods Six patients with IBMFS were enrolled in the study,The clinical history,physical exam,skeletal X-ray examination and laboratory evaluation including routine analysis of blood,bone marrow morphology,chromosome,chromosomal breakage testing,endocrine hormone,pancreatic exocrine and endocrine test,urine screening,serum folacin and vitamine B12 test,fetal hemoglobin F(HbF) were analyzed.Gene magnification and s... |
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| Keywords: | Inherited bone marrow failure syndromes Clinical feature Gene mutation analysis |
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