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双语推荐:多关节炎综合征

脊柱关节炎( spodyloarthritis,SPA )是一组互相关联的,通常侵犯脊柱、外周关节、关节周围结构的多系统炎性疾病,包括强直性脊柱炎( ankylosing spondylitis, AS )、银屑病关节炎( psoriatic arthritis,PSA )、反应性关节炎( reactive arthritis,REA )、赖特综合征( Reiter's syndrome,RS )、炎性肠病关节炎( inflammatory bowel disease arthritis )、幼年发病的脊柱关节病以及分类未定的脊柱关节病。
Spondyloarthritis is a group of interrelated diseases, including ankylosing spondylitis, psoriatic arthritis, reactive arthritis, Reiter’s syndrome, inlfammatory bowel disease arthritis, juvenile onset spondyloarthropathy and unclassified spondyloarthropathies. Ankylosing spondylitis is the original type of such diseases. They have something in common, such as family history, HLA-B27 related, clinical manifestations, sacroiliac joint, enthesis and ligament involved and so on. Although the pathogenesis of the disease is not yet clear, its criteria is gradually updated with the deepening of research on the disease. From Rome criteria to New York criteria for ankylosing spondylitis,we become more objective. From Amor and ESSG criteria to ASAS criteria for spondyloarthritis,we are more inclined to the early diagnosis and treatment of the disease to improve the prognosis. This paper reviews the evolution of criteria to analyze the discovery, awareness and research of the disease
目的报道1例服用甲巯咪唑(商品名赛治)出现抗甲状腺综合征的患者,并进行文献复习。方法对1例30岁女性服用赛治出现抗甲状腺综合征患者的临床资料进行回顾性分析,并复习相关文献。结果本例患者因甲状腺功能亢进症口服赛治(10 mg,tid)治疗,25 d后出现游走性多关节疼痛、活动受限。停用赛治,口服洛索洛芬钠(商品名乐松)治疗,关节疼痛好转。换用丙硫氧嘧啶治疗,无不良反应。结论口服赛治可发生抗甲状腺关节炎综合征,需立即停药。
Objective To report one case of taking thyrozol appears arthritis syndrome patients and a literature review. Methods A 30-year-old female patient with hyperthyroidism appeared arthritis syndrome after starting therapy with the antithyroid drug thyrozol.The patient clinical data were retrospectively analyzed, and review of the literature. Results The patient with hyperthyroidism due to oral thyrozol (10 mg tid) therapy 25 days, her joint happened the migratory joint pain, and limited mobility. Thyrozol was withdrawn.Symptoms disappeared after loxonin was given. Oral therapy was switched to propylthiouracil, no adverse reactions. Conclusion Antithyroid arthritis syndrome can occur when thyrozol therapy for hyperthyroidism. Prompt withdrawal of the antithyroid drug is necessary.

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6月26—28日,中华医学会第十九次全国风湿病学学术会议在广州成功召开。为期3天的会议中,200多位国内外讲者在9个分会场围绕着系统性红斑狼疮、类风湿关节炎、干燥综合征、硬皮病、痛风、强直性脊柱炎、血管炎及骨关节炎、炎性肌病等风湿性疾病展开了一系列的精彩学术报告。
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目的:总结系统性红斑狼疮(systemic lupus erythematosus,SLE)合并 Evans 综合征患者的临床特点。方法回顾性分析北京协和医院2004年1月至2012年7月 SLE 合并 Evans 患者的临床表现及实验室特点及治疗和预后。结果 SLE 并发 Evans 综合征患者22例,占同期 SLE 住院患者3400例的0.65%。其中男3例,女19例,平均35.1岁(16~53岁)。22例患者中以血液系统受累[特发性血小板减少性紫癜(idiopathic thrombocytopenic purpura,ITP)或自身免疫性溶血性贫血(autoimmune hemolytic anemia,AIHA)]为首发表现的11例(50%),确诊 SLE 后诊断 Evans 综合征者6例,二者同时诊断的5例。SLE 并发 Evans 综合征时,患者往往有多系统受累,表现为肾脏受累13例(59.1%),皮肤黏膜受累、关节炎各9例(40.9%),神经系统受累4例(18.2%),胃肠道、肺部受累各2例等。Evans 综合征多发生于 SLE 活动期,患者平均狼疮活动指数评分(11.45±7.6)分(3~30分)。伴发其他结缔组织病5例(22.7%)。经激素联合免疫抑制剂治疗后,20例好转,2例无效者应用利妥昔单抗后好转。结论 SLE 合并 Evans 综合征罕见,发生于 SLE 多系统受累及活动期。部分患者以ITP 或 AIHA 为
Objective To analyze the clinical features of Evans syndrome in systemic lupus erythematosus (SLE) patients.Methods Clinical and laboratory manifestations occurring during the disease course,as well as concomitant diseases,treatment and outcomes was carefully reviewed.Results There were 22 SLE patients with Evans Syndrome accounted for 0.65% of the 3 400 hospitalized SLE patients.Nineteen were female and 3 were male,with the mean age of 35.1 year.Evans syndrome was diagnosed prior to SLE in 11 patients,after SLE in 6 patients,and concomitantly with lupus in 5 patients.Active features of SLE were a frequent finding concomitant to Evans syndrome,including renal involvement in 13 cases (59.1%), arthritis in 9 patients (40.9%),rash in 6 patients (40.9%),neuropsychiatric manifestations in 4 cases(18.2%),etc.In addition,22.7% of our patients had an association with another autoimmune disease such as antiphospholipid syndrome.Conclusion Evans syndrome is a rare manifestation in SLE,

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目的 分析总结误诊为脊柱关节炎(SpA)的低磷软骨病(HO)的临床特点,寻找误诊原因,改善HO患者的预后.方法 收集曾误诊为SpA的26例HO患者病历资料,对其临床特征、实验室检查及影像学表现进行分析,并回顾相关文献,总结其临床特点.结果 (1)一般资料:26例患者男12例,女14例,中位年龄38(20 ~ 60)岁,平均病程3.2(9个月~10年)年,其中肿瘤致HO15例,长期口服阿德福韦酯致HO 4例,范可尼综合征致HO 3例,甲状旁腺功能亢进症致HO 2例,干燥综合征并发肾小管酸中毒致HO 2例.26例患者均有腰背痛,晨僵约30 min,其中15例有夜间腰背痛.(2)实验室检查:PLT、炎性指标[ESR、C反应蛋白(CRP)]多正常,血钙正常或稍低,所有患者均有低磷血症,ALP均升高.阿德福韦酯、范可尼综合征、干燥综合征并发肾小管酸中毒致HO患者有低钾、高氯血症、碱性尿,甲状旁腺功能亢进症患者甲状旁腺激素(PTH)升高,干燥综合征患者抗核抗体(ANA)(滴度≥1∶320)、抗SSA/SSB抗体阳性.(3)影像学检查:HO患者可在X线、CT、PET-CT、MRI上表现为骶髂关节病变,但病变均以骶骨、髂骨为主,而非关节本身.同时有骨代谢异常的表现,骨扫描异常不仅存在于关节部位,在肋骨、长骨及其他软组织部位均可见异常显像.结论 HO在临床上并不少见.
Objective To study and summarize the clinical features of hypophosphatemia osteomalacia (HO) misdiagnosed as spondyloarthritis (SpA),aiming to analyze the reasons of misdiagnosis and improve the prognosis of such patients.Methods A total of 26 cases of HO misdiagnosed as SpA were selected.Clinical features,laboratory tests,and image presentations were analyzed.Related literatures were reviewed.Results (1) Clinical characters:26 patients were included (12 males and 14 females) with a median age of 38 years (range 20-60).The mean disease duration was 3.2 years (range 0.75 to 10 years).Of all the patients,15 were diagnosed as tumor-induced HO,4 were long-term oral adefovir dipivoxil-related HO,3 were associated with Fanconi syndrome,2 were related to hyperparathyroidism,while 2 were Sjogren''s syndrome complicated with renal tubular acidosis.All of the 26 patients presented with low back pain including 15 with night pain.The time of morning stiffness was about 30 minutes.Non-ste

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目的 探讨抗丙氨酰 tRNA 合成酶(alannyl tRNA synthetase,PL-12)抗体阳性的抗合成酶综合征(anti-synthetase syndrome,ASS)患者的临床特征。方法 分析2010年8月至2013年8月北京协和医院5例抗 PL-12抗体阳性 ASS 住院患者的临床表现、血清学结果和影像学改变。结果 5例抗 PL-12抗体阳性患者的基础疾病为皮肌炎2例,类风湿关节炎/干燥综合征、系统性硬化症和间质性肺炎各1例。5例患者均有肺间质病变,4例为首发和突出表现,胸部高分辨计算机断层扫描显示双下肺网格影和磨玻璃影为主;肺功能提示限制性通气功能和弥散功能障碍。典型皮肌炎皮损和技工手各2例,肌炎、关节炎、雷诺现象和发热各1例。胞浆型抗核抗体阳性4例,抗 Ro-52抗体阳性4例,抗 SSA 抗体阳性1例。5例患者中4例应用大剂量糖皮质激素(0.8~1.5 mg·kg ^-1·d^ -1)联合环磷酰胺(100 mg/d),1例还联用了甲氨蝶呤和环孢菌素 A,1例单独应用雷公藤多甙。治疗后3例患者病情好转,2例患者病情稳定。结论 抗 PL-12抗体与肺间质病变密切相关,而肌炎少见。
Objective The purpose of this study was to examine the clinical profile of patients with anti-alanyl-tRNA synthetase (anti-PL-1 2)antibody.Methods Five patients with anti-PL-1 2 antibody admitted into Peking Union Medical College Hospital were presented.The major clinical,serological,and radiographic data were analyzed.Results All 5 patients with anti-PL-1 2 antibody had evidence of interstitial lung disease (ILD)by clinical examination,imaging and pulmonary function tests.Clinical features presented were dry cough,gradual dyspnea,and crackles at lung bases.Lung function test showed a restrictive pulmonary dysfunction pattern and impaired gas exchange.High-resolution computed tomography scan revealed (predominantly basilar)reticular and ground-glass opacities,accompanied by a loss of lung volume,traction bronchiectasis,and scattered (usually peribronchovascular)areas of consolidation.This distinct pattern was highly suggestive of antisynthetase syndrome-related ILD.Four of 5 anti-PL-12
目的 通过对临床疑似Blau综合征(BS)患儿进行NOD2基因分析以确诊,了解BS的基因突变类型及临床特点,并试图寻找区分BS的临床指征.方法 2006-2014年于北京协和医院就诊的18例BS临床疑似患儿,其中男7例、女11例,就诊年龄1岁8个月~9岁6个月.取患儿及父母抗凝外周血4 ml,常规提取DNA,对NOD2基因进行PCR扩增,2%凝胶电泳分离PCR产物,纯化,测序.对于新发现错义突变,应用SIFT软件分析其致病性,并对50名健康对照进行测序验证.进而分析基因确诊的BS组患儿临床资料,并与未发现突变的非BS组进行比较.x2检验进行组间比较.结果 (1)12例患儿经基因诊断确诊为BS,其余6例被除外.共发现7种错义突变,4种为已报道突变:c.1000C >T,p.Arg 334Trp;c.1001G> A,p.Arg334Gln;c.1538T>C,p.Met513Thr;c.1759C>T,p.Arg587Cys.3种为新突变c.1147 G>C,p.Glu383Gln;c.1471A >T,p.Met491 Leu;c.2006A>G,p.His669Arg.(2)12例基因确诊BS患儿均有关节炎表现并伴多关节周围的囊肿,囊肿无压痛,有波动感.7例患儿具有典型的皮疹、虹膜睫状体炎及关节炎三联征症状;3例无皮疹;1例无眼部症状;1例仅表现为关节炎及关节周围囊肿而无其他症状.4例患儿有家族史,为经父遗传.(3)基因确诊的BS患儿全部有沿关节周
Objective Blau syndrome (BS),an autosomal dominant inherited autoinflammatory disease,is caused by NOD2 mutations.This study aimed to analyze NOD2 gene of suspected BS patients to make definite diagnosis,find NOD2 mutation types and clinical features of Chinese BS cases,and find some clinical indications to identify BS by comparing BS and non-BS cases.Method Eighteen suspected BS children (7 boys and 11 girls,age of first visit was from 1 y 8 m to 9 y 6 m) who visited Peking Union Medical College Hospital from 2006 to 2014 and their parents''s DNA were extracted from 4 ml blood specimens.PCR was performed for exon 4 of NOD2 and PCR products were purified by 2% gel electrophoresis and sequenced directly.Role of novel missense mutations in pathogenicity was analyzed by SIFT and sequencing NOD2 of fifty normal controls.Clinical data of BS children diagnosed by NOD2 analysis were summarized and compared with the data of non-BS group.Result (1) Twelve of eighteen suspected BS chi

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目的 总结血管炎性周围神经病的临床电生理及周围神经活检病理特点.方法 回顾性分析北京大学第三医院神经科15例血管炎性周围神经病患者临床表现、电生理特点及腓肠神经活检病理特点.结果 15例患者中,男8例,女7例,年龄38~82岁,周围神经病病程0.5~60个月.12例患者诊断为系统性血管炎性周围神经病,5例为原发性系统性血管炎,其中Churg-Strass综合征(CSS)2例,抗中性粒细胞胞浆抗体(ANCA)相关性血管炎3例;其余7例为继发性系统性血管炎,其中系统性红斑狼疮(SLE)1例,干燥综合征(SS)2例,类风湿关节炎(RA)3例,白塞病伴发甲状腺乳头状癌1例,乙型肝炎1例,1例患者SS伴发RA.3例患者诊断为非系统性血管炎性周围神经病.血管炎病理类型:1型4例,2型2例,3型9例.神经纤维病变类型:轴索变性为主8例,轴索变性伴脱髓鞘7例,其中2例伴局部神经束膜增厚.结论 血管炎性周围神经病的临床特点以多数性单神经病变和非对称性多神经病变多见;电生理特点以轴索病变为主,感觉、运动神经均受累,部分患者伴发脱髓鞘改变;神经病理特点为以轴索病变为主,可伴发脱髓鞘改变.
Objective To summarize the clinical features,electrophysiology and neuropathological characteristics of peripheral nerves in patients with vasculitic neuropathy.Methods We retrospectively analyzed the clinical,electrophysiology and neuropathological characteristics of 15 patients with vasculitic neuropathy who underwent electrophysiology and sural nerve biopsy in our department from January 2009 to June 2013.Results There were 8 males and 7 females,aged from 38 to 82 years old,with a peripheral neuropathy course ranged from 0.5 month to 60 months.In the total of 15 patients,3 patients were diagnosed as nonsystemic vasculitic neuropathy,while the other 12 patients were diagnosed as systemic vasculitis neuropathy (SVN) including 5 cases of primary systemic vasculitis and 7 cases of secondary systemic vasculitis.In patients diagnosed as primary systemic vasculitis,there were 2 cases of Churg-Strass syndrome (CSS) and 3 cases of ANCA associated vasculitis.In patients diagnosed as secondary
目的 通过分析全身型幼年特发性关节炎(SoJIA)合并巨噬细胞活化综合征(MAS)患儿的临床资料及部分病例PRF1、UNC13D、STX11、STXBP2基因,揭示参与SoJIA并发MAS可能的遗传因素及SoJIA合并MAS相关临床特征.方法 收集整理2011年2月至2014年2月广州市妇女儿童医疗中心34例SoJIA合并MAS患儿的临床资料,扩增其中29例患儿PRF1、UNC13D、STX11、STXBP2基因所有参与编码的外显子序列后测序行序列分析.选择30名无血缘关系的健康儿童作为健康对照组.等位基因及基因型频率分布比较采用Pearson x2检验分析,以P<0.05为差异有统计学意义.结果 34例SoJIA合并MAS患儿,其中男孩23例,中位年龄6岁.29例患儿行基因检测发现4个SNP位点.其中PRF1发现1个SNP位点c.1061C>T(rs885822);UNC 13D基因发现1个SNP位点c.659 C>T (rs3744007);STXBP2基因检测出2个SNP位点c.1483T>C(rs10001)、c.1616 A>G (rs6791).与健康对照组相比,病例组SNP位点PRF1基因rs885822基因型频率及等位基因频率差异有统计学意义(等位基因:x2=4.52,P=0.03;基因型:x2=5.52,P=0.02),STXBP2基因rs10001基因型频率及等位基因频率分布与对照组相比差异有统计学意义(等位基因:x2=21.33,P=0.00;基因型:x2=19.58,P=0.00).多态性位
Objective To investigate the clinical characteristics of 34 systemic onset juvenile idiopathic arthritis (SoJIA) complicated with macrophage activation syndrome (MAS) and analyzed the gene PRF1,UNC13D,STX11,STXBP2 to figure out the genetic pathogenesis mechanism.Methods The clinical characteristics of 34 SoJIA complicated with MAS were analyzed retrospectively and coding sequences of PRF1,UNC13D,STX11 were amplified and tested.The Chi-square test was applied to compare the distribution of alleles and genotypes frequencies between SLE patients and healthy controls.Statistical significance was defined as P value <0.05.Results A total number of 34 SoJIA complicated with MAS were included.Boys accounted for 69%(23/34),and the median age was 6 years.85%(29/34) cases had genetic tests and four SNPS loci were detected:PRF1 c.1061 C>T (rs885822); UNC13D c.659 C>T (rs3744007); STXBP2 c.1483 T>cC (rs10001) and STXBP2 c.1616 A>G (rs6791).Compared with the control group,genotype a

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