血管紧张素转化酶基因多态性与系统性红斑狼疮关联性研究进展

系统性红斑狼疮（systemic lupus erythematosus，SLE）是一种累及多脏器的自身免疫性结缔组织病；病因复杂，受遗传、免疫、神经内分泌、环境等多因素影响。狼疮肾炎（lupus nephritis，LN）是SLE最常见而严重的临床表现。肾素-血管紧张索系统（renin-angiotensin system，RAS）是机体内一个重要系统，许多研究表明其与免疫系统功能异常有关，在SLE发病过程中RAS参与了免疫介导的多脏器损伤过程。因其还参与对血压、血流和内环境等调节作用，被认为是导致LN发病的重要因素。而血管紧张素转化酶（angiotensin-converring enzyme，ACE）是肾素-血管紧张素系统的关键酶，有关ACE基因与SLE关联研究日益受到人们关注，本文就近年来在此方而研究作一综述。     

IL-6在类风湿关节炎合并系统损害中的作用机制研究进展

类风湿关节炎(rheumatoid arthritis,RA)是一种以关节损坏为主的慢性自身免疫性疾病,除关节受累外,RA也可累及多系统,如肺、血液系统、心血管、肾脏等,RA合并症及并发症发病率可高达17.8%~40.9%[1],严重影响患者预后.白介素6(interleukin 6,IL-6)表达失调参与许多疾病的发病,如类风湿性关节炎、系统性红斑狼疮、Reiter综合征、硬皮病、酒精性肝硬化、膜性增生性肾小球肾炎、银屑病、呼吸系统、泌尿系统、血液系统、排斥反应、肿瘤及妊娠期高血压疾病等[2-3].IL-6作为重要的炎性细胞因子参与RA关节炎发病过程,在RA系统损坏中起重要作用[4],现就IL-6在RA及其系统损害中的作用综述如下.     

强直性脊柱炎2261例流行特征及功能状态现状分析

目的 了解强直性脊柱炎(AS)病人的流行特征和功能状态现状,以期为AS的早期诊断和治疗提供基础资料.方法对AS病人进行回顾性调查分析,共收集到符合标准的调查表2261份.结果2261例AS病人中,男性病人共有1873例,女性病人共有388例,男女性别之比为4.83:1.病人平均发病年龄为(23.6±8.7)岁,男性病人发病年龄平均为(23.3±8.9)岁,女性病人发病年龄平均为(25.2±7.6)岁,性别间差异有统计学意义(t=3.21,P=0.001).病程中位数4.00(2.00,8.00),男性病人病程中位数是4.00(2.00,9.00),女性病人病程中位数是3.00(1.00,6.00),性别间差异有统计学意义(Z=3.32,P=0.001).AS病人首发症状主要以腰背痛或不适(中轴)症状为主,共739例,占42.7%.在本次调查中,HLA-B27阳性病人2064例,占91.3%,其中男性病人阳性率为92%,女性病人阳性率为88%,性别间差异有统计学意义(χ2=4.17,P=0.041).幼年型强直性脊柱炎(JAS)病人479例,成年型强直性脊柱炎(AAS)病人1782例,两组疾病活动指数比较结果:两组的Schober检查(t=1.99,P=0.047)、枕墙距(Z=2.67,P=0.008)、总体背痛程度(t=2.28,P=0.023)差异有统计学意义.结论AS主要在男性青壮年中发病,尤其是有中轴关节或外周关节症状等表现应及早筛查,HLA-B27阳性者也应做早期筛查.JAS与AAS在临床特征和功能状态上差别较大.     

膝骨关节炎患者关节结构改变与关节疼痛症状的相关性研究

目的探讨膝骨关节炎(OA)患者关节结构改变与关节疼痛等症状之间的关系。方法收集102例膝OA患者(91例女性),平均年龄55岁,应用WOMAC评分量表对患者临床症状,即关节疼痛感、僵硬感、关节功能进行评分。关节结构改变应用X线和MRI技术测定,对患者膝关节X线片进行骨赘(OP)(0³分)及关节间隙狭窄(JSN)评分(03分)及关节间隙狭窄(JSN)评分(0³分),对MRI进行软骨缺损(CD)(03分),对MRI进行软骨缺损(CD)(0⁴分)及骨髓病变(BML)评分(04分)及骨髓病变(BML)评分(0³分),分析其与关节疼痛等症状的关系。结果膝OA不同疼痛程度间,JSN和CD的严重程度差异无统计学意义(χ2值为0.936和2.168,P均>0.05),而OP和BML的严重程度比较差异有统计学意义(χ2值为7.664和10.737,P均<0.05)。Spearman相关分析发现:JSN及CD与关节疼痛感、僵硬感及关节功能均无明显相关,OP与膝关节疼痛感及关节功能相关(rS为0.380及0.235,P均<0.05),BML与关节疼痛相关(rS=0.342,P<0.05)。结论 OA患者关节疼痛程度与关节结构的改变有关,OP和BML是影响关节疼痛及关节功能的主要原因,而JSN和CD与关节疼痛等无明显相关。     

氨基咪唑氨甲酰转移酶基因多态性在类风湿关节炎患者甲氨蝶呤治疗中的研究

Objective To investigate the relationship between the single nucleotide polymorphism of aminoimidazole carbexamide ribonucleotide transformylase gene and the efficacy and toxicity of methotrexate treatment in rheumatoid arthritis. Methods Total of 359 patients with RA were divided into mono-therapy with MTX group, combination therapy with other DMARDs group and other DMARDs combination with no MTX treatment group. The clinical and laboratory measurements were evaluated before therapy and 12, 24 weeks after therapy. Efficacy (evaluated by ACR20) and side effects of the drugs were also assessed. Real-time fluorescent quantitative PCR was conducted to test ATIC 347C/G mutation in RA patients and 340 healthy controls. Results There was no statistical significant difference in 347 CC, CG, GG between RA patients and healthy controls. In the MTX mono-therapy group (n=107), 72% (n=77) there was no statistical significant difference in 347CC, CG, GG between patients with good response and patients without efficacy. 32.7%(n=35) of these patients experienced adverse drug reactions. The ATIC G allele carriers (22.4%) experienced a greater frequency of side effects than the CC carriers (OR=2.672, 95%CI, 1.27～5.59, P<0.05). In MTX combined with other DMARDs group (n=128) and other DMARDs combination without MTX group (n=90), the polymorphism in the ATIC gene was not associated with good clinical response and adverse events (P>0.05). Conclusion There is no statistical significant difference between RA and healthy controls in the ATIC347 gene. Polymorphism in the ATIC gene is not associated with clinical response to MTX treatment, but the ATIC347 G allele is associated with MTX toxicity. It maybe used to predict the adverse drug reactions of patients who take MTX.     

系统性红斑狼疮的消化系统表现及其诊治

系统性红斑狼疮(SLE)是一个多系统受累的自身免疫病.SLE消化系统症状发生率为25%～50%,约10%SLE患者以消化系表现为首发症状[1].SLE消化系统累及发生率高,不具特异性,并且与感染、药物、血栓形成等原因引起的症状鉴别困难,易误诊,尤其是以消化系统症状为首发表现的SLE更易误诊[2].     

系统性红斑狼疮合并噬血细胞综合征二例并文献复习

例1 患者男,51岁.患者于2005年4月7日因发热1个月入住我院,体温多波动在39℃以上,无咳嗽、腹泻、皮疹等.既往常有口腔溃疡.无关节痛、光过敏等.