儿童系统性红斑狼疮与人类白细胞抗原-A、B、DR等位基因的相关性研究

目的　研究儿童系统性红斑狼疮 (SLE)与人类白细胞抗原 (HLA) A、B、DR等位基因的相关性。方法　对 5 3例SLE患儿及 78例正常对照儿童 ,应用微量淋巴毒实验和聚合酶链反应结合序列特异性多态性 (PCR SSP)分析方法分别行HLA Ⅰ类抗原及HLA Ⅱ类基因检测。结果　发现SLE患儿HLA Ⅰ类抗原A9、A11、B5、B17较正常对照儿童升高 ,与SLE发病相关。HLA Ⅱ类基因DRB1 15、DRB1 0 3基因频率较正常对照儿童明显增高 ,与SLE发病相关。而DRB1 0 4基因频率明显降低 ,为疾病保护基因。其中 ,HLA基因的型别不同 ,可影响SLE的临床表现 ,狼疮肾炎主要与HLA DRB1 0 3基因相关 ,而DRB1 15则与各型SLE相关。结论　系统性红斑狼疮患儿携带HLA A9、A11、B5、B17、HLA DRB1 15、DRB1 0 3基因与SLE易感有关。其中HLA型别不同 ,影响SLE患儿的临床表型。DRB1 0 4基因频率降低 ,为疾病保护性基因     

人类白细胞抗原配型一个位点不合非血缘脐血移植治疗急性淋巴细胞性白血病一例

近年脐血已成为造血干细胞重要来源之一并用于血液病的治疗。我们于2002年11月进行了一例人类白细胞抗原(HLA)配型一个位点不合的非血缘脐血移植(unrelated umbilical cord blood transplantation,UCBT),获得成功。现报告如下。     

脐血干细胞移植在儿童疾病中的应用前景

骨髓造血干细胞移植(BMT)是近年来各国应用较为广泛的医治血液系统疾病的方法。BMT可分为自体和异体造血干细胞移植两种,由于种种原因均开展得很局限。一般无血缘关系的人群中。HLA配型一致的机率是1～2万分之一,再加之对骨髓移植的偏见使多数人不愿接受HLA配型检测,因此,干细胞的来源成为干细胞移植的一大难题。     

儿童特发性缺血性中风的临床和免疫遗传特征

目的探讨儿童特发性缺血性中风的临床和免疫遗传特征.方法对来自我国北方地区,临床表现和影像学检查均符合缺血性中风诊断标准的43例患儿(其中男27例,女16例;年龄1～11岁);采用微量淋巴细胞毒试验测定组织相容性复合体-Ⅰ(HLA-Ⅰ)中的A、B抗原;用PCR/SSO方法测定HLA-Ⅱ中的DRB1、DQA1和DQB1抗原.结果在HLA-A位点的抗原频率中,HLA-A空白位点频率与对照组相比显著增加[相对风险(RR)=8.126,χ     

脐血造血干细胞移植研究进展

随着血液学和移植免疫学的快速发展,尤其是人类白细胞抗原(HLA)配型技术的不断发展,造血干细胞移植(hematopoietic stem cell transplantation,HSCT)技术逐渐成熟并广泛应用,成为治愈某些血液病的重要方法,并有望在今后的生物学治疗和基因治疗中发挥重要的作用.     

儿童系统性红斑狼疮与HLA基因单倍型和基因型的相关性及家系分析

目的 探讨HLA基因连锁不平衡情况对儿童SLE发病的影响,以期发现HLA基因在SLE发病中的作用。方法 53例SLE患儿,其中40例有父母资料,35例HLA-DRB*15阳性的SLE患儿,其中有父母资料者27例,78名健康对照儿童,43名有父母资料,及1个SLE大家系作为研究对象,应用微量淋巴毒实验,序列特异性引物聚合酶链反应方法,分析了研究对象的HLA-I类抗原A、B位点,HLA-Ⅱ类基因。DRBI位点的多态性。根据实测的单倍型及基因型情况与正常对比,分析了SLE患儿与HLA-A、B、DR单倍型及基因型的相关性,并分析了DRB1*15阳性的SLE患儿其DRB1*15基因来自父母的垂直传递情况。结果 (1)患儿比正常对照单倍型种类少,患儿与对照共有单倍型较少。单倍型A9B40DRB1*15频率在SLE患儿中较对照高,SLE大家系的研究中,也恰恰表现为A9B40DRB1*15单倍型与患病相连锁。(2)SLE患儿基因型以DRB1*09／DRB1*15及DRB1*03／。DRB1*15多见。(3)在父母携带DRB1*15基因相同的情况下,SLE患儿的DRB1*15基因来源于父亲者较正常对照多。结论 SLE发病不仅与单个HLA基因有关,而且与HLA的某些基因组合相关,由此可见SLE多发位点的致病作用有叠加性。SLE患儿DRB1*15来自父亲者较对照组多,其机理及意义尚不清楚,可能与HLA的遗传模式有关。     

造血干细胞移植治疗原发性免疫缺陷病

原发性免疫缺陷病(PID)是一组少见的遗传性疾病,患儿往往发生反复感染,因而生命受到严重威胁.造血干细胞移植是唯一能够治愈该病的方法.目前认为人类白细胞抗原(HLA)相合的同胞是最佳的造血干细胞供者.但随着造血干细胞移植技术的发展,非亲缘HLA相合、单倍体相合供者亦成为PID患者可供选择的造血干细胞来源.由于脐带血干细胞库的建立,脐带血干细胞移植成功治疗PID的例数也日益增加.现就不同供者及移植物来源的造血干细胞在严重联合免疫缺陷病、Wiskott-Aldrich综合征、高IgM综合征以及慢性肉芽肿病的移植治疗的特点及进展进行综述.     

造血干细胞移植治疗β地中海贫血

异基因造血干细胞移植（allo-HSCT）是目前临床根治重型β地中海贫血的惟一方法。对有人类白细胞抗原（HLA）全相合同胞供者的患者,应尽早进行HSCT,治愈率可达80%～90%。高分辨HLA配型相合的无关供体移植亦取得良好结果。血缘相关HLA 不全相合和单倍型HSCT扩大了移植物来源,移植效果尚不肯定。移植后需密切检测嵌合体变化,优化预处理方案,提高移植相关并发症防治技术,将进一步改善移植效果。     

重型β-珠蛋白生成障碍性贫血异基因造血干细胞移植后移植物抗宿主病

目的 探讨异基因造血干细胞移植治疗重型β-珠蛋白生成障碍性贫血(地贫)并急(慢)性移植物抗宿主病(GVHD)的规律及预防方案.方法 分析本院1997-2004年行58次异基因造血干细胞移植52例重型地贫患儿资料.预处理方案以白消安加环磷酰胺加抗人胸腺免疫球蛋白为主,依据人类白细胞抗原(HLA)配型情况等分别加用氟达拉滨或全身放疗.GVHD预防方案:环孢素(CsA)或他克莫司(FK-506)加甲氨蝶呤(MTX)或霉酚酸脂(MMF).观察比较不同移植类型、骨髓来源等GVHD的发生情况及预后.结果 随访1～104个月,GVHD总发生率为72.7%(24例),其中21例为急性GVHD(占87.5%),3例为慢性GVHD(12.5%);GVHD临床分度为I、Ⅱ、Ⅲ～Ⅳ度,发生率分别为27.3%(9例)、27.3%(9例)和18.1%(6例).非亲缘或单倍体供者移植组GVHD发生率为66.7%,外周血造血干细胞移植(PBSCT)者GVHD发生率为100%.结论 地贫移植后GVHD发生以急性为主,临床分度以I、Ⅱ度为主,非亲缘供者、单倍体移植组GVHD发生率高,尤以PBSCT发生率高;CsA加MMF是比较有效的预防方法.     

Wiskott-Aldrich综合征患儿异基因造血干细胞移植后EB病毒相关淋巴组织增殖性疾病1例报告并文献复习

目的 探讨儿童Wiskott-Aldrich综合征(WAS)异基因造血干细胞移植术(allo-HSCT)后EB病毒(EBV)相关淋巴组织增殖性疾病(PTLD)的治疗.方法 回顾分析1例行allo-HSCT的WAS患儿的临床资料,并检索复习相关文献.结果 12岁男性WAS患儿,获骨髓库人类白细胞抗原(HLA)配型10/1...     

Liver transplantation

OBJECTIVE: To review the clinical aspects and the theoretical basis of liver transplantation in children, focusing mainly pre and post surgical periods. METHODS: References were obtained from computerized search in the National Library of Medicine (Medline), recent review articles, and personal files. RESULTS: Great development has occurred in surgical techniques, in organ preservation, in postoperative care, and in immunosuppression methods after the first liver transplantation surgery took place in a child with biliary atresia in 1963. Liver transplantation has become an efficient therapy, widely accepted and used in all age groups. It is a very complex procedure, with many professionals involved and with several legal, ethical and economical implications. We review in this article the clinical aspects before transplantation, including indications, contraindications, clinical and laboratory evaluations, as well as postsurgical aspects, both in the immediate period, after the 1st week, and the long-term outcome, discussing the complications and the treatment of each. CONCLUSIONS: Liver transplantation has dramatically improved the survival of pediatric patients with chronic hepatic diseases. Patients of liver transplantation in the pediatric age group present today survival rates of 90% in the different transplantation centers.     

Intestinal transplantation

Advances in immunosuppressive treatment as well as better monitoring and control of acute rejection have brought intestinal transplantation (ITx) into the realm of standard treatment for permanent intestinal failure. The results from the intestinal Transplant International Registry (www.intestinaltransplant.org) indicate that ITx is currently an acceptable clinical modality for selected patients with permanent intestinal failure¹. The goal of this short review is to deal with indications, clinical results and complications of ITx. Although it has been used in humans for the past two decades, very few data are available regarding graft function and its monitoring.     

Pancreas transplantation

Clinical pancreas transplantation is a procedure being applied with increasing effectiveness for the treatment of diabetes. The authors examine, through the Pancreas Transplant Registry, all known cases of islet transplantation since 1970 and all pancreas transplantation since 1977 and then summarize their own work on pancreas transplants at the University of Minnesota.     

Small-bowel transplantation

Success with small-bowel transplantation has been hindered by technical difficulties, problems with immunosuppression, and diagnosis of rejection. Studies utilizing rat, dog, and pig models have yielded some success, especially with the use of cyclosporine. However, long-term survival has not been routinely achieved. Efforts at human small-intestinal transplantation prior to cyclosporine availability were unsuccessful. Recently, seven bowel transplants have been performed using cyclosporine immunosuppression. Two patients remain alive at 1 and 4 months postoperatively. Although it is appropriate to undertake small-bowel transplantation in selected centers, our current knowledge and experience does not warrant routine application.