儿童与成人皮肌炎临床对照分析

目的探讨儿童与成人皮肌炎临床特点的差别。方法回顾性分析61例儿童皮肌炎患者的临床资料,并与30例成人患者进行比较。结果除1例儿童患者,所有患者首发症状均为皮疹、面部红斑;儿童患者出现Gottron’s丘疹者90%,成人67%;儿童患者钙盐沉积7%;儿童患者累及心血管系统7%,成人为23%;儿童患者无肿瘤发生,成人发生肿瘤13%。儿童和成人患者肌酶阳性检测率高低均依次为LDH、羟丁酸酶、CK-MB、AST、CK;儿童和成人患者磁共振检测阳性率均超过80%。儿童和成人患者中各有2例死亡。结论儿童皮肌炎与成人皮肌炎患者临床表现基本相同,但儿童患者首发症状中皮疹、Gottron’s丘疹更多见,心血管病变及恶性肿瘤少见。磁共振检查有助于皮肌炎的诊断。     

不同评价工具在幼年皮肌炎病情评估中的应用价值

目的通过对不同评价工具用于儿童幼年皮肌炎病情活动度及严重程度评估的信效度检验及相关性分析,确定不同评价工具的临床应用价值。方法回顾分析2008年1月至2018年9月诊治的幼年皮肌炎患儿的临床资料,比较入院当日及入院后24～48小时,利用儿童肌炎评定量表(CMAS)、肌炎活动性评价工具(MDAAT)、疾病活动性评分量表(DAS)完成的病情评估的信度和效度。结果共纳入35例患儿,包括2例多肌炎,4例无肌病皮肌炎,29例典型皮肌炎;男性15例,女性20例;平均起病年龄为(3.16±1.45)岁。血清酶学升高比例50.0%～95.5%。首发症状为皮疹、肌力减退及二者共存者分别占60.0%、37.1%和2.9%。MDAAT、DAS、CMAS三种评价工具的Cronbach α系数均0.8,组内相关系数(ICC)均0.75;KMO-Bartlett球形检验和探索性因子分析显示,以上评价工具结构效度均良好,各评价工具评分在治疗前后的差异均有统计学意义(P均0.05);其中DAS用时短,完成时间仅为(1.56±0.20)min。结论 MDAAT、DAS、CMAS均具有较高的信度、效度,而DAS临床应用性更强。     

杜氏肌营养不良患儿的相关基因研究

目的　对确诊为杜氏肌营养不良 (DMD)患儿血清进行基因和肌酸磷酸激酶 (CPK)检测 ,以研究DMD的基因缺失情况以及与CPK的关系。方法　①采用多重引物PCR的方法检测基因缺失 ;②应用多功能全自动生化仪检测CPK。结果　① 30例患儿中基因缺失者 17例 (5 6 7% ) ,单一缺失者 8例 (47 1% ) ,多重缺失 9例(5 2 9% )。其中外显子 5 1缺失占 6 4 7% (11人次 ) ,其次为 4 8缺失占 5 2 9% (9人次 ) ;4 5缺失占 35 2 % (6人次 ) ;4 4缺失占 17 6 % (3人次 ) ;12缺失占 11 8% (2人次 ) ;外显子 8、17、19缺失各 1人次 ,各占 5 9%。②外显子缺失者CPK(1196 2 78± 6 30 5 6 5 )IU/L与无外显子缺失者CPK (95 37 6 9± 4 30 3 85 )IU/L相比 ,单一缺失者CPK(1170 4 6 5± 6 5 6 1 10 )IU/L与多重缺失者CPK(12 192 2 2± 6 0 96 80 )IU/L比较 ;单纯外显子 5 1缺失CPK(135 4 2 10± 5 5 73 93)IU/L与外显子 5 1缺失合并 4 8缺失者CPK(12 2 16 2 5± 6 833 75 )IU/L相比 ,三组均P >0 0 5 ,无显著性差异。结论　①应用PCR技术检测DMD基因缺失检出率较高 ,多重缺失占 4 7 1% ,其中以外显子 5 1、4 8、4 5缺失最多见 ;②外显子缺失与否或缺多少与CPK增高程度无相关性     

幼年型皮肌炎特异性抗体研究进展

幼年型皮肌炎（juvenile dermatomyositis，JDM）是以近端肌无力和皮疹为主要临床表现的自身免疫疾病，亦可累及多系统、多脏器。肌炎特异性抗体（myositis-specific autoantibodies，MSA）与JDM患者的并发症及预后高度相关。抗Mi-2抗体阳性患者预后较好，临床症状典型；抗MDA5抗体阳性患者多伴发弥漫性间质性肺疾病及皮肤溃疡，肌炎症状轻；抗NXP2抗体阳性患者易合并钙质沉着，该抗体与胃肠出血及穿孔相关；抗TIF1-γ抗体阳性患者有弥漫、顽固的皮损表现；抗SAE抗体在儿童中检出率较低，相关报道较少。该文综述了5种MSA亚型JDM患者的临床表型特点，为JDM患儿的临床治疗和随访管理提供依据。     

儿童原发性干燥综合征的临床特点

目的 探讨儿童发病的原发性干燥综合征(primary Sjogren’s Sydrome,pSS)临床特点,了解其与成人发病的pSS之间的差异。方法 回顾性分析我院门诊及住院诊治的pSS 421例,其中儿童发病者21例,成人发病者400例。结果 儿童组男2例,女19例,成人组男35例,女365例,两组间男女比例相似;成人发病者首发症状表现多样化,常见口眼干燥、关节疼痛、腮腺肿大、肾小管酸中毒等,儿童发病者首发症状以肾小管酸中毒、反复腮腺肿大、皮肤损害多见,未见肺部及神经系统明显受累;在整个发病过程中,儿童pSS肾小管酸中毒(52.4％)、皮疹紫癜(47.6％)均高于成人,而成人pSS的眼干燥(61.0％)和肺部病变(25.2%)则高于儿童(P均<0.01);实验室检查方面,儿童pSS类风湿因子(rheumatoid factor,RF)及γ球蛋白阳性率为100%,均高于成人pSS(p相似文献   

儿童皮肌炎1例报告

皮肌炎是以皮肤、肌肉及小血管炎症为特点的结缔组织病,其病因尚未明了。儿童皮肌炎为一种少见病,与成人皮肌炎比较,多见有肌萎缩、关节挛缩、胃肠受累、钙质沉着等;雷诺氏现象与伴发肿瘤在小儿甚为少见,而成人患者中10～20%可有之、近年来发病似有增多趋势,国内曾见30例儿童皮肌     

系统性红斑狼疮心脏损害及其相关因素分析

目的　探讨系统性红斑狼疮 (SLE)并心脏损害的特点及相关因素。方法　对 78例SLE患儿进行回顾性分析 ,并分为并心脏损害组 (40例 )与无心脏损害组 (38例 )。结果　SLE患儿并心脏损害占 5 1.3% ,最常见为心包积液 ,占 33.3% ;其次心肌炎 ,占 2 1.8% ;肺动脉高压占 12 .8%。SLE并心脏损害组与无心脏损害组在发热、高血压、肾功能不全、高滴度ANA、抗DNA阳性及低补体C3 方面均有显著差异 (P均 <0 .0 5 ) ,并得出其线性关系 :^ Y=- 8.4 32 0 .2 5 9T 0 .2 1BUN 5 .3× 10 -5ANA 1× 10 -4DNA - 0 .137C3 ,r =0 .76 2。结论　SLE心脏损害是与否发热、高血压、肾功能不全、高滴度ANA、抗DNA阳性及低补体C3 有关 ,SLE心脏损害提示病情较重     

风湿病及结缔组织病

9刃圈犯小儿皮肌炎广泛性钙沉若症1例Z马雪莉…刀陕西氏学佘志一1卯3.差科)一2户铭~250 患儿男,3岁9个月。查体:皮下结节高低不平,大部分与皮下组织枯连固定,质坚如骨.血I刀H、CPK增高,细胞免疫功能低下,E卜IG:肌原性损害。X线片:双镜部、股部、膝关节周围、左肤骨下端软组织中可见大小不等钙化影。组织活检为真皮内钙质沉着.采用免疫调节剂治疗,钙质结节已有软化,无再发结节。图1(赵淑琴) 9…勿从〕皮肤粘膜淋巴结综合征即例l1$床分析了曹开贵…刀重庆医学一1叩3念取l)一21~22 9飞淤l新生儿城崎病再发l例报告了她中理宁物庆)lj科杂志…     

幼年皮肌炎46例临床特征及治疗随访分析

目的研究幼年皮肌炎(JDM)的临床特征、实验室及辅助检查、治疗用药和疗效以及远期预后,使该病能早期诊断及时治疗。方法回顾性分析了2003—2007年北京儿童医院住院JDM患儿46例,分析其临床表现、实验室及影像学检查、治疗用药及远期随访结果和预后。结果46例患儿中女20例,男26例,女比男为1∶1.3;年龄1~14岁,平均年龄7岁。临床表现主要为皮疹及肌无力,93%的患儿有高春征,100%的患儿有颜面部紫红色皮疹,89%的患儿有甲床毛细血管异常;所有的患儿均有不同程度的肌无力,严重者需要呼吸机辅助呼吸。46%的患儿有内脏受累,其中大部分(71%)为2个以上系统受累,最常受累系统为呼吸系统(37%),其次是消化系统(33%)、心血管系统(26%)及神经系统(11%)。实验室检查100%的患儿有肌酶增高,其中CK最具特异性。所有的患儿肌电图均表现为肌源性损害。治疗用药,除应用糖皮质激素外,均在早期加用甲氨蝶呤,有肺损害及重症患儿加用环孢素A。早期治疗效果及远期预后均较好,46例患儿在急性期死亡2例,死因为肺部受累合并感染致呼吸衰竭,远期并发症少见。结论JDM是一类预后相对较好的自身免疫性疾病,关键在于早期诊断和积极治疗,认识JDM的特征性表现有助于早期诊断。     

42例进行性肌营养不良分析与携带者筛选

本文报告42例进行性肌营养不良,共分4型。2/3病例有明显家族史,平均发病年龄6.95岁。假肥大型患儿鸭行步态发生率最高(93.6%),Gower氏征占61.3%。生化检查结果因型而异,假肥大型CPK、LDH、Mb的异常率分别为87.1%、71.0%、70%。携带者筛选总检出率27.5%,其中CPK异常率24.2%,LDH异常率17.6%,≤20岁和>20岁两年龄组可疑携带者CPK、LDH的检出率均无显著性差异(p>0.05)。     

Significance of a positive antinuclear antibody test in a pediatric population

Clinical and laboratory findings in 138 children seen during a ten-year period with a positive antinuclear antibody (ANA) test were reviewed. Two thirds (91 of 138) of the patients had specific autoimmune or rheumatic diseases, including systemic lupus erythematosus (n = 37), juvenile rheumatoid arthritis (n = 33), Sj?gren's syndrome (n = 9), mixed connective tissue disease (n = 7), dermatomyositis (n = 3), and discoid lupus (n = 2). Another 27 patients had symptoms of autoimmune disease but did not fit criteria for specific disorders. Nine patients with IgA deficiency had a positive ANA test but did not have symptomatic autoimmune disease. Ten children had a positive ANA test in association with infections, mainly viral, and one had leukemia. Because most children with a positive ANA test had readily diagnosable autoimmune disorders, pediatric patients with a positive ANA on repeated testing should undergo clinical and laboratory studies for autoimmune or rheumatic disease.     

A study of specificities of antinuclear antibodies in juvenile rheumatoid arthritis.

The sera from 77 children with juvenile rheumatoid arthritis were studied for the presence of antinuclear antibodies, rheumatoid factor, and for antibodies to seven well-characterized nuclear antigens which occur in specific rheumatic diseases of adults. These included: Sm, RNP, DNA, RNA, RAP, SS-A, and SS-B. Forty-nine percent of the sera from patients with JRA contained ANA. The most common pattern was speckled. The frequency of all other positive tests was too low (13%) to make correlations with disease states. However, a small group of girls with polyarticular and late-onset disease had a high incidence of RF or RAP. These two antibodies were not associated with each other as they are in adult RA.     

Clinico-immunological profile in juvenile rheumatoid arthritis—an Indian experience

From a Pediatric Rheumatology Clinic 361 children diagnosed as juvenile rheumatoid arthritis (JRA) according to American Rheumatism Association-JRA criteria were studied retrospectively for their clinico-immunological profile. The mean age of onset in systemic, pauciarticular and polyarticular onset, JRA subtypes were 5.2, 6.8 and 7.2 years respectively. There was male preponderance in systemic and pauciarticular JRA. In seropositive polyarticular JRA, girls outnumbered boys. The frequency of occurence of systemic, pauciarticular and polyarticular disease was 87 (24%), 108 (30%) and 166 (46%) respectively. The systemic onset disease was dominated by extra-articular manifestations in terms of fever (100%), rash (57%), hepatomegaly (51%) and lymphadenopathy (25%). The pauci- and polyarticular illnesses were commonly dominated by joint involvement, morning stiffness, and in few patients, by extra-articular manifestations also. The joints were involved symmetrically. Most commonly involved joints in order of decreasing frequency were knee, ankle, wrist and elbow in all the subtypes. Anemia and leucocytosis were observed in majority with higher frequency in systemic onset JRA. The rheumatoid factor (RF) was present in 15% of polyarticular JRA. RF was also present in 7 and 9% of patients with pauciarticular and systemic subtypes respectively. The antinuclear antibody was positive in only 3 out of 66 patients in whom the test was carried out. The demographic profile and trends in clinical features were similar to the studies reported on caucasian population with difference in the actual frequency of various clinical features.     

Characteristics of juvenile dermatomyositis in Japan

Questionnaires were sent to 1290 hospitals in Japan asking for data on patients with juvenile dermatomyositis (JDM) diagnosed between June 1984 and May 1994. Of the 204 patients identified by these questionnaires, 102 met the criteria for JDM. JDM is categorized into three subtypes: Banker-type JDM , Brunsting-type and fulminant-type; patients with the latter exhibit markedly elevated serum levels of creatinine phosphokinase (> 10 000 U/mL) and appear to be at risk of renal failure. Cutaneous manifestations were present in 98% of patients and preceded the appearance of other symptoms. This tendency is one of the reasons for the difficulty in some cases in diagnosing the onset of JDM. Better criteria for early treatment of JDM are needed. The results of the present study suggest that itching and calcinosis are factors that indicate a poor prognosis in patients with JDM. Muscle enzyme levels do not always reflect disease activity, suggesting that methods other than measurement of muscle enzymes, such as measurement of the levels of neoprerin and von Willebrand factor antigen, as well as magnetic resonance imaging should be used to be evaluate disease severity. Patients with Brunsting-type JDM who exhibit dysphagia and antinuclear antibody positivity and patients with Banker-type JDM should be treated aggressively. Pulse therapy should be selected as the initial therapy in patients with fulminant-type JDM.     

幼年皮肌炎120例临床特点及治疗随访分析

目的 研究幼年皮肌炎(JDM)的临床特征、治疗效果以及转归.方法 回顾性分析2003年12月-2011年3月在北京儿童医院住院JDM患儿120例,分析其起病情况、临床表现、实验室检查及辅助检查、治疗方法、随访和预后.结果 120例患儿男55例,女65例;发病年龄1～14岁,平均年龄7岁.患儿均有典型的皮损及不同程度的肌肉症状,83例(69%)患儿有内脏受累,最常受累系统为呼吸系统(48%).所有患儿肌酶增高,肌电图均表现为肌源性损害.120例患儿均采用糖皮质激素治疗,均在早期加用甲氨蝶呤,有肺损害及重症患儿加用环孢素或环磷酰胺.早期治疗效果及远期预后均较好,120例在急性期死亡7例,死于肺部受累并感染致呼吸衰竭5例,并巨噬细胞活化综合征2例.结论 JDM是一种少见疾病,以肌无力和皮肤损害为突出表现,其皮损具有特征性,各脏器功能评估对诊断和判断疾病严重性非常有益;糖皮质激素联合免疫抑制剂治疗JDM安全有效,且预后较好.     

Frequency of antinuclear antibodies and rheumatoid factor in healthy Turkish children

The frequency of antinuclear antibodies (ANA) and rheumatoid factor (RF) was investigated in 118 apparently healthy children (56 male, 62 female). The mean age was 9.8+/-2.3 years. Antinuclear antibodies (ANA) were detected by indirect immunofluorescence, using a Hep-2 cell substrate. Nephelometry was used to quantify RF in 116 children. Five serum samples (4%, 3M, 2F) were ANA-positive in low titers and all had a speckled pattern. None of the ANA-positive children had other extractable antinuclear antibodies. Rheumatoid factor (RF) was over 25 IU/ml in four children (3%, 3F, 1M). None of these was positive for both antibodies. Our results suggest a similar frequency of ANA in healthy Turkish children even with a Hep-2 cell substrate, when compared to results of other reports. On the other hand, RF was more frequent than in other reported series.     

Anti-melanoma differentiation-associated gene 5 antibody is a diagnostic and predictive marker for interstitial lung diseases associated with juvenile dermatomyositis

The presence of the anti-melanoma differentiation-associated gene 5 antibody was evaluated in 13 patients with juvenile dermatomyositis (JDM). The antibody was positive in 5 of the 6 patients with JDM-associated interstitial lung disease (ILD), but not in the 7 patients without ILD. This antibody is a useful marker for early diagnosis of JDM-associated ILD.     

Sjogren syndrome in childhood: report of two cases

A 12-year-old boy who developed primary Sjogren syndrome and a girl, whose diagnosis of secondary Sjogren syndrome was established at the age of 3, are reported. The importance of some unusual manifestations at disease onset and possible differences in expression between children and adults are briefly discussed.Abbreviations ANA antinuclear antibodies - RF rheumatoid factor - SS Sjogren syndrome - 1°SS primary Sjogren syndrome - 2°SS secondary Sjogren syndrome     

Juvenile Sharp syndrome (mixed connective tissue disease)]

Five children with Sharp syndrome are described presenting a non-erosive polyarthritis, hand and finger swelling, Raynaud phenomenon, myositis, dermatomyositis or SLE-like rash. Characteristic laboratory findings are, apart from elevated sedimentation rate, anemia and leucopenia, high titer IgM rheumatoid factors and antinuclear antibodies (ANA). The latter show speckled pattern, contain IgG, bind complement components and are directed against ribonuclease-sensitive nuclear antigens. All patients have antibodies against the so-called extractable nuclear antigens (Anti-ENA) and antibodies against ribonucleoproteins (Anti-RNP). Since children with Sharp syndrome rarely show renal or cerebral involvement, the prognosis seems to be fairly good.     

Profiling anti-cyclic citrullinated peptide antibodies in patients with juvenile idiopathic arthritis

ABSTRACT: BACKGROUND: Anti-citrullinated peptide antibodies (ACPA), have high specificity for rheumatoid arthritis (RA). Some children with juvenile idiopathic arthritis (JIA), phenotypically resemble RA and test positive for rheumatoid factor (RF) a characteristic biomarker of RA. We investigated the prevalence of ACPA and its relationship to other serologic markers associated with RA in a well-characterized JIA cohort. METHODS: Cases were 334 children with JIA, 30 of whom had RF + polyarticular JIA. Sera from all cases and 50 healthy pediatric controls were investigated by ELISA at a single time point for anti-cyclic citrullinated peptide (anti-CCP) IgG, RF IgM, IgA and IgG, anti-RA33 IgG, and antinuclear antibodies (ANA). Comparisons between cases and controls were made using Chi-square or Fisher exact tests and T-tests. RESULTS: The prevalence of RF was 8 % among controls, and 12 % among cases (ns). The prevalence of ACPA was 2 % in controls and 14.3 % in cases (OR 8.2, p <0.01). Children who were ACPA-positive and RF-negative (n = 23) had a significantly earlier onset-age (4.6 years vs. 12.1 years, p <0.00001) and had fewer HLA-DRB1 shared epitope alleles than those positive for both RF and ACPA (n = 25). Prevalence of anti-RA33 was not different between cases and controls. CONCLUSIONS: ACPAs are detectable in 14 % of children with JIA. Children with positive ACPA but negative RF are frequent, and may define a distinct subset of children with JIA. ACPA testing should be included in the classification of JIA.