风湿病及结缔组织病

073867儿童不典型系统性红斑狼疮的诊断与治疗/曹兰芳∥实用儿科临床杂志.-2007,22(9).-641~643073868儿童系统性红斑狼疮国内外诊断标准比较/陈瑜…∥实用儿科临床杂志.-2007,22(9).-715~717073869多发性肌炎/皮肌炎研究进展/宋晓颖…∥实用儿科临床杂志.-2007,22(9).-704~706073870小儿皮肌炎的临床特征/楚海峰…∥实用儿科临床杂志.-2007,22(9).-689~690回顾性分析15例小儿皮肌炎(JDM)的临床特点,对其血清肌酶、肌肉活检的病理改变及患儿对糖皮质激素的疗效和预后资料进行分析。结果:JDM患儿均有对称性近端肌无力;最常见皮肤改变是眼…     

儿童多发性肌炎和皮肌炎临床分析

目的 探讨儿童多发性肌炎(PM)和皮肌炎(DM)的临床特点与治疗.方法 分析1999年4月-2004年6月诊断为PM和DM 6例患儿的临床特点、实验室检查、肌电图和肌肉活检结果,以及糖皮质激素联合免疫抑制剂治疗疗效和预后.结果 PM和DM患儿均有对称件近端肌无力,皮肤改变为双上眼腧水肿性淡紫红色斑和Gottron征,部分患儿累及关节、心脏、肺脏和消化系统;6例患儿均有肌酶升高,肌电图呈肌源性损害,肌肉活检示肌炎改变;泼尼松联合免疫抑制剂治疗后,肌力恢复至Ⅱ～Ⅲ级约为1～3个月.肌力从Ⅲ～Ⅳ级恢复至正常为7～13个月,四肢肌力早于颈部肌力恢复;血清肌酶1～6个月恢复正常,ESR、CRP、肝功能异常治疗后均恢复正常;6例患儿中5例已停止治疗,最长停药时间为4年,肌力正常,无发热、皮疹等情况,1例治疗中出现对称性腕关节、近端指间关节肿痛,活动受限.结论 PM和DM以肌无力和皮肤损害为突出表现,其他系统亦可受累,各脏器功能评估对诊断和判断疾病严重性非常有益;肌电图和肌肉病理检查是确诊PM和DM及与其他原因引起的肌病鉴别的重要依据;糖皮质激素联合免疫抑制剂治疗PM和DM安全有效,儿童PM和DM预后较好.     

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.     

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。     

Duchenne型进行性肌营养不良40例临床分析

目的 探讨Duchenne型进行性肌营养不良(DMD)的临床特点及肌酶、肌电图、肌肉活检的诊断价值.方法 对40例经dystrophin蛋白检测确诊的DMD患儿的临床特征及实验室检查资料进行分析.结果 40例患儿平均年龄7.2岁,平均发病年龄4.5岁,15%患儿有家族史.40例患儿均有典型的临床症状和体征,肌酶升高以肌酸磷酸激酶(CPK)升高为主,≤8岁年龄组CPK值高于＞8岁组.所有患儿肌肉活检均有肌纤维变性和坏死,12.5%的患儿尚伴炎性细胞浸润.在有肌源性损害同时,15%的患儿肌电图尚有神经源性损害.结论 血清肌酶、肌电图及肌活检是DMD重要的辅助诊断指标,对于肌电图有神经源性损害和肌活检病理检查有炎性细胞浸润者,应进行基因检测和(或)dystrophin蛋白检测.     

儿童型肌炎/皮肌炎临床和病理研究

目的　儿童型多发性肌炎 /皮肌炎 (JPM /DM)目前在国内外文献中的大宗病例报道不多。为深入探讨两病的特征 ,本文着重研究其临床及病理特点 ,以进一步认识两病。方法　回顾性分析 4 2例JPM/DM (2 4例JPM ,1 8例JDM )患儿的临床资料 ,总结其临床表现、血清肌酶学、肌电图、肌肉病理的特点。结果　该病临床上主要有肌无力、肌萎缩 ,CK等血清肌酶增高 ,肌电图主要呈肌源性损害。JDM大多还有典型的皮肤损害 ,部分病例可出现皮下钙质沉积。JPM/DM的肌肉病理均显示免疫炎性改变。JPM组肌内膜炎发生率较JDM组高 (70 .8%vs 38.9% ,P <0 .0 5 ) ,JDM组肌束周萎缩及血管病变的发生率较JPM组高 (72 .2 %vs 4 1 .7% ,94 .4 %vs 5 4 .2 % ,P <0 .0 5或 0 .0 1 )。结论　JPM和JDM的临床和病理有所不同 ,JPM的病理改变可表现为散在肌纤维变性坏死、肌内膜炎改变为主的特征 ,部分病例微血管病变较明显 ;而JDM组的典型病理为广泛微血管病变和肌束周萎缩     

致命性婴儿型肥大型肌原纤维肌病2例报告并文献复习

目的探讨CRYAB基因变异相关致命性婴儿型肥大型肌原纤维肌病的临床特点及预后。方法回顾分析2例致命性婴儿型肥大型肌原纤维肌病患儿的临床资料,并结合文献复习。结果 2例患儿均为男性,发病年龄分别为3个月和8个月,均表现为躯干肌肉僵硬,限制性呼吸困难。血肌酸激酶升高,血、尿筛查无显著异常。彩色多普勒超声心动图未见异常。MRI示腹壁肌肉、大腿肌肉等骨骼肌增厚。肌电图示肌强直电位。1例患儿行肌活检示肌源性损害。2例患儿基因检测均显示CRYAB基因c. 3 GA的纯合核苷酸变异,受检者父母均为杂合子;DMPK型基因均未见异常。结论躯干肌肉强直引起限制性呼吸困难时应行基因检查和肌肉活检,需排除CRYAB基因变异相关致命性婴儿型肥大型肌原纤维肌病。     

严重胃肠道受累的幼年皮肌炎4例病例系列报告

目的 探讨幼年皮肌炎(JDM)合并严重胃肠道受累患儿的临床特点、诊断与治疗。方法 回顾性分析4例合并严重胃肠道受累及肠穿孔JDM患儿的临床资料及诊治经过,并行文献复习。结果 4例患儿(P1～P4),男1例,女3例,起病年龄1岁8个月至5岁,发现胃肠道症状于JDM确诊后4～10个月,胃肠道受累的首发症状均为腹痛。P1先后十二指肠及横结肠穿孔,P2十二指肠穿孔合并肝动脉破裂,P3肠穿孔部位不详,P4肠壁增厚;4例均为抗NXP2抗体强阳性,均使用大剂量甲基泼尼松龙、环磷酰胺、IVIG冲击治疗,P1行穿孔造瘘术后治疗2年完全缓解,在修补造瘘口后猝死;P2术后死于感染及十二指肠瘘;P3死于弥漫腹壁出血;P4自体干细胞移植术后完全缓解。检索PubMed数据库共检索到12例JDM合并胃肠道穿孔患儿,发生在JDM确诊后2个月至9年,穿孔时首发症状为腹痛,可伴有呕吐及发热;十二指肠穿孔8例,结肠穿孔3例,空肠穿孔1例,胃幽门部穿孔1例,食管颈部穿孔1例,1例不详;其中5例患儿多部位或多次穿孔。11例行外科手术;9例好转,3例死亡,其中1例死于反复肠穿孔,1例死于术后ARDS,1例死因不详。结论 难治性JDM长期不缓解可合并消化道穿孔,其消化道首发症状为腹痛;常见肠穿孔部位为十二指肠腹膜后;发生严重胃肠道受累的JDM常见肌炎特异性抗体为抗NXP2抗体;肠穿孔一旦发生病死率高,尤其是十二指肠穿孔并无有效的术式;对于难治性JDM自体干细胞移植可能是改善预后的有效措施。     

小儿线粒体性脑肌病4例报告

目的研究小儿线粒体性脑肌病临床特点及其诊断标准。方法总结临床特点,检测血清乳酸及丙酮酸水平,行肌电图、ＣＴ脑扫描、肌活检组织化学染色及电子显微镜超微结构检查。结果４例患儿表现为肌无力,肌萎缩,眼外肌麻痹,身材矮小,癫痫,进行性智力、听力和视力障碍。实验室检查示血乳酸水平升高。肌电图示肌病特点。脑ＣＴ见脑萎缩及基底节对称性钙化。肌活检改良Ｇｏｍｏｒｉ三色染色可见蓬松红纤维。电子显微镜可见形态结构异常的巨大线粒体,部分线粒体内含结晶样包涵体。本文对临床特点、诊断标准、治疗及预后进行了讨论。结论小儿线粒体脑肌病罕见,临床特点及肌肉病理检查是诊断本病的重要根据。     

托法替布治疗合并间质性肺病的难治性幼年型皮肌炎一例并文献复习

目的总结托法替布治疗难治性幼年型皮肌炎(JDM)的经验。方法分析2021年3月中国医科大学附属盛京医院小儿肾脏风湿免疫科收治的1例确诊合并间质性肺病(ILD)的难治性JDM患儿的病史特点、托法替布治疗过程、辅助检查等资料, 以评价其疗效。结果患儿, 男, 12岁, 持续周身皮疹, 戈特隆征阳性, 四肢近端进行性肌无力, 病程超过6个月, 伴心肌酶、转氨酶、血沉、肌红蛋白、涎液化糖链抗原6(KL-6)显著升高, 抗PL-7肌炎抗体阳性, 肌电图提示四肢肌源性损害, 影像学显示双肺胸膜下间质性炎症改变, 确诊为合并ILD的JDM。予患儿糖皮质激素联合环孢素及环磷酰胺治疗5月余, KL-6仍持续高值, 肺部间质性渗出无好转, 且血沉复升, 免疫性高炎症未控制, 诊断为难治性JDM合并ILD, 遂予托法替布治疗, 停用免疫抑制剂, 效果显著, 免疫性炎症指标下降, 肺部间质渗出较前好转, 泼尼松逐渐减量。随访9月余病情稳定, 四肢肌力Ⅳ级, 肌肉酶学、免疫学炎症指标正常, 且未见不良反应。结论托法替布为合并ILD的难治性JDM的治疗提供了新的临床选择, 在传统的激素及免疫抑制剂疗效不佳时, 尽...     

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。     

Anasarca: not a nephrotic syndrome but dermatomyositis

Juvenile dermatomyositis (JDM) is a rare autoimmune disease characterized by inflammation of the muscle, connective tissue, skin, gastrointestinal tract, and small nerves. Periorbital and facial edema may also be associated. Although localized edema is a common feature of JDM, generalized edema has rarely been reported. Here, we report a 3.5-year-old boy with JDM presenting with generalized edema. The diagnostic criteria of JDM rely on typical clinical manifestations that include: severe symmetric weakness of the proximal musculature, characteristic cutaneous changes, elevated serum skeletal muscle enzymes, and myopathic electromyographic pattern. Our patient initially received methylprednisolone and intravenous immunoglobulin (IVIG) without significant improvement, so he was given azathioprine and a prolonged course of oral prednisolone. We conclude that JDM should be suspected in patients presenting with anasarca in the absence of laboratory parameters of other causes of generalized edema and an appearance of heliotrope rash with muscle weakness. Also, we suggest that muscle magnetic resonance imaging (MRI) should be considered among the diagnostic tools of JDM.     

Juvenile dermatomyositis: An atypical presentation

Juvenile dermatomyositis (JDM) is a rare disease of unknown etiology that results in inflammation of the connective tissue of striated muscle, subcutaneous tissue, nail beds, and skin. Although JDM is a rare disease, occurring in 3 per 1 million children, it is the most common idiopathic, inflammatory, myopathic disease of childhood. A case example is provided that describes an atypical presentation of JDM. Information about the disease, the usual and unusual clinical manifestations, the diagnostic processes, and therapeutic management plans for JDM are presented. Results of a comparison between this case and the literature are discussed, along with implications for nurse practitioners.     

Duration of illness is an important variable for untreated children with juvenile dermatomyositis

OBJECTIVE: To evaluate the impact of duration of untreated symptoms in children with juvenile dermatomyositis (JDM) on clinical and laboratory status at diagnosis. STUDY DESIGN: We examined physical and laboratory data from the first physician visit for 166 untreated children with JDM. Disease activity scores (DASs) assessed skin and muscle involvement. Height and weight were compared with the National Health and Nutrition Examination Survey III dataset. Duration of untreated illness was designated as the time from first sign of rash or weakness to diagnostic visit. RESULTS: Boys and girls with untreated JDM were shorter and lighter than national norms (P > .0005 for both), and nonwhite children were weaker than white children (P > .0005). Older children had more dysphagia (P = .017) and arthritis (P > .001). Duration of untreated JDM was negatively associated with DAS weakness (P > .0005), unrelated to DAS skin, and positively associated with pathological calcifications (P = .006). With untreated disease > or = 4.7 months, serum levels of 4 muscle enzymes (aldolase, lactic dehydrogenase, creatine kinase, serum glutamic-oxaloacetic transaminase/aspartate aminotransferase) tended toward normal (P > .01 for each). CONCLUSIONS: Duration of untreated symptoms is an important variable and should be included in decisions concerning both diagnostic criteria and intensity of therapy for children with JDM.     

儿童先天性完全性气管环的临床及诊治特点

目的探讨儿童先天性完全性气管环(CCTR)的临床及诊治特点。方法 2008年1月—2009年12月628例支气管镜检查患儿中诊断CCTR 18例,随访7～27个月,对其临床特点、影像学表现、镜下特征、治疗及转归进行综合分析。结果 18例中15例表现为反复咳喘,1例为气管插管困难,2例为术后撤机困难。CCTR多位于气管的中下部,合并支气管桥畸形时CCTR位于左主支气管。所有病例均经支气管镜检查确诊。治疗及转归:4例行气管成形术,3例死亡,1例预后好;3例行球囊扩张术,2例术后喘息改善;11例未对CCTR进行处理,6例预后好,2例仍反复喘息,3例死亡。结论 CCTR多表现为反复咳喘。支气管镜是诊断CCTR的金标准,对球囊扩张术有部分治疗作用,需根据临床情况选择适当的治疗方式及手术时机。     

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.     

Disease patterns of juvenile dermatomyositis from western India

A retrospective assessment of clinical characteristics, complications/ associations, laboratory investigations, treatment modalities and outcome in an inceptional cohort of 22 (male-13) children with juvenile dermatomyositis (JDM) receiving treatment at Jaslok Hospital, Mumbai during 1997–2012 was performed. Mean age at diagnosis was 7.52 ± 3.99 years. Typical skin rash and muscle weakness were present in all children. Common complications included cutaneous ulcers (27.27%), dysphagia (22.72%) and calcinosis (18.18%).All patients presented with at least one of the serum muscle enzymes elevated. Absence of mortality and cardio-pulmonary complications and a monocyclic course in 72.7% of our patients are at variance from Western series.     

儿童原发性肾病综合征合并颅内静脉血栓4例病例报告

目的 通过对原发性肾病综合征合并颅内静脉血栓患儿行临床分析,探讨儿童NS合并颅内静脉血栓早期诊断和治疗的可行方案。方法 纳入2012年1月至2015年9月在上海市儿童医院住院的原发性肾病综合征且经头颅CT和（或）MRI确诊的颅内静脉血栓患儿,对其临床症状、实验室指标、影像学检查结果、疗效及预后进行分析。结果 4例原发性肾病综合征合并颅内静脉血栓患儿进入分析,均为男性,年龄5岁4个月至11岁4个月,出现颅内静脉血栓时间距原发性肾病综合征起病时间为1个月至7年余。4例颅内静脉血栓发病时均有神经精神系统症状,查体均未见神经系统阳性体征。3例在颅内静脉血栓发病期间D-二聚体、纤维蛋白原降解产物（FDP）均升高,抗凝血酶Ⅲ（AT-Ⅲ）下降;确诊后D-二聚体、FDP较前继续升高; 4例血清白蛋白明显降低,总胆固醇明显升高。4例出现颅内静脉血栓临床症状当日或次日均行头颅MRI增强+MRV+MRA检查,3例为左侧乙状静脉窦血栓,1例为脑栓塞。明确颅内静脉血栓诊断后,3例予尿激酶溶栓,低分子肝素钙和双嘧达莫抗凝治疗;1例脑栓塞患儿予对症和抗凝治疗;4例症状均明显改善。3例出院后6~12个月随访头颅MRI增强+MRV显示颅内异常信号均有不同程度吸收。结论 儿童原发性肾病综合征合并 颅内静脉血栓易发生于左侧乙状静脉窦。在原发性肾病综合征病程中如出现神经精神系统症状时,应及时行头颅MRI相关序列检查,有助于颅内静脉血栓早期诊断;早期积极溶栓治疗预后良好。