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| So-JIA并巨噬细胞活化综合征临床特征及穿孔素A91V基因分析(英文) | |
| 引用本文： | 曾华松,陈香元,熊小燕,韦艳丹,罗小平. So-JIA并巨噬细胞活化综合征临床特征及穿孔素A91V基因分析(英文)[J]. 临床儿科杂志, 2009, 27(7) |
| 作者姓名： | 曾华松 陈香元 熊小燕 韦艳丹 罗小平 |
| 作者单位： | 1. 华中科技大学同济医院儿科,湖北,武汉,430030;广州市妇女儿童医疗中心,广州市儿童医院过敏免疫风湿科,广东广州,510120 2. 广州市妇女儿童医疗中心,广州市儿童医院过敏免疫风湿科,广东广州,510120 3. 华中科技大学同济医院儿科,湖北武汉,430030 |
| 基金项目： | the Science and Technology Commission Research Grants of Guangzhou City Governments，the Science and Technology Commission Research Grant of Guangdong Government，the Science and Technology Commission Research Grants of National Ministry of Personnel |
| 摘 要： | 目的 分析幼年特发性关节炎-全身型(So-JIA)并巨噬细胞活化综合征(MAS)的临床特点、治疗及转归,并探讨穿孔素基因与So-JIA并MAS的关系.方法 回顾性分析广州市儿童医院2003年1月至2008年6月收治的14例So-JIA并发MAS患者的临床资料,对其中7例患者进行序列特异性引物-聚合酶链反应(SSP-PCR)分析穿孔素第2外显子第272C/T基因(A91V gene)多态性.结果 14例患儿9例为男性,5例为女性;年龄为4个月～12岁.临床表现以长期发热、骨髓噬血现象、血细胞减少为特征,可伴随有浅表淋巴结肿大、肝脾肿大、肝功能损害、脂代谢异常,糖皮质激素及免疫抑制剂治疗有效.其中出现急性呼吸窘迫综合征(ARDS)2例,出现多器官功能衰竭(MOF)3例,死亡3例.7例So-JIA并发MAS的患者穿孔素A91V基因均为野生型,未发现有突变基因.结论 MAS病情凶险,预后与早期诊断及治疗有关.MOF可能足其预后差的指征.未发现广东地区汉族So-JIA并MAS患儿与穿孑L素A91V基因多态性有关. |
| 关 键 词： | 穿孔素 巨噬细胞活化综合征 幼年特发性关节炎 |
Clinical Features and Perforin A91V Gene Analysis of So-JIA Children with Macrophage Activation Syndrome |
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| Zeng Hun-song,Chen Xiangyuan,Xiong Xiao-yan,Wei Yan-dan,Luo Xiao-ping. Clinical Features and Perforin A91V Gene Analysis of So-JIA Children with Macrophage Activation Syndrome[J]. The Journal of Clinical Pediatrics, 2009, 27(7) | |
| Authors: | Zeng Hun-song Chen Xiangyuan Xiong Xiao-yan Wei Yan-dan Luo Xiao-ping |
| Affiliation: | 1.Pediatric Department;Tongji Hospital;Tongji Medical College;Huazhong University of Science and Technology;Wuhan 430030;Hubei;China;2.Department of Allergy;Immunology and Rheumatology;Guangzhou Children's Hospital;Guangzhou Weman and Children' s Medical Center;Guangzhou Medical College;Guangzhou 510120;Guangdong;China |
| Abstract: | Objective Macrophage activation syndrome(MAS) is a severe,potentially life-threatening clinical condition.The clinical features including precipitating events,clinical presentations,treatment strategies,outcome in systemic onset juvenile idiopathic arthritis(So-JIA) children with MAS were reviewed.Perforin A91V gene analysis was also performed.Methods Retrospective review of fourteen MAS cases with So-JIA from 2003 to 2008 from a collected database.Gene-specific polymerase chain reaction(PCR) primers were u... |
| Keywords: | perforin macrophage activation syndrome juvenile idiopathic arthritis |
| 本文献已被 CNKI 万方数据 等数据库收录！ | |