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1.
目的探讨皮肌炎(JDM)患儿的临床特点和疗效。方法回顾性分析1990年1月~2004年1月住本院15例小儿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镜状红斑和高春征;患儿均有肌酶升高,肌电图示呈肌源性损害;肌肉活检示肌炎改变,8例经激素治疗1个月肌酶恢复正常,2.5个月肌力改善。结论掌握小儿JDM临床特征对诊断有重要意义,早期诊断、合理治疗可改善预后。  相似文献   

2.
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.  相似文献   

3.
Duchenne型进行性肌营养不良40例临床分析   总被引:1,自引:0,他引:1  
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.  相似文献   

4.
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...  相似文献   

5.
儿童型肌炎/皮肌炎临床和病理研究   总被引:2,自引:0,他引:2       下载免费PDF全文
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  相似文献   

6.
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…  相似文献   

7.
多发性肌炎/皮肌炎研究现状   总被引:1,自引:0,他引:1  
多发性肌炎(PM)和皮肌炎(DM)是累及全身骨骼肌为主的炎性肌肉病变,其发病与自身免疫异常有关。随新的诊断技术如自身抗体检测技术及磁共振技术的应用,进一步提供了早期临床诊断依据;皮质激素联合免疫抑制剂及丙种球蛋白的应用明显改善本病预后。本文就PM/DM的发病机制、辅助检查及治疗方面的研究进展作一综述。  相似文献   

8.
目的 提高对常染色体显性遗传Emery-Dreifuss 肌营养不良症(EDMD)的临床和分子生物学特点的认识。方法 总结1例EDMD患儿的临床表现、诊断、肌肉活检病理学和基因检测结果,并综合文献进行分析。结果 女性,12岁,表现为进行性四肢无力,近端为著,脊柱僵硬,伴明显的双侧跟腱、肘挛缩。血浆肌酶轻度升高。肌电图提示肌源性改变,运动和感觉神经传导速度正常。股四头肌活检病理学检查显示肌肉细胞大小不均,萎缩和肥大的纤维交替存在,部分肌纤维代偿性肥大,脂肪及结缔组织增生明显,符合肌营养不良的病理表现。基因检测发现LMNA基因外显子4的序列变异c.746G>A(p.Arg249Gln)。结论 基因分析是确诊EDMD的最可靠方法。对进行性的、双侧对称的肌肉无力,并伴有肘关节、跟腱挛缩和脊柱僵硬的患儿应进行LMNA基因分析,有助于早期诊断EDMD。  相似文献   

9.
儿童韦格纳肉芽肿10例临床分析   总被引:1,自引:0,他引:1  
目的 分析儿童韦格纳肉芽肿的特点,提高对该病的认识.方法 对10例韦格纳肉芽肿患儿的临床表现、辅助检查、病理结果、治疗等资料进行总结分析.结果 10例患儿中上呼吸道、肺脏受累10例,肾脏受累6例,关节、皮肤、眼及神经系统等也有不同程度受累.实验室检查胞浆型抗中性粒细胞胞浆抗体(cANCA)阳性8例;5例行病理检查(肾脏1例,鼻黏膜2例,皮肤2例),均表现血管炎和(或)肉芽肿性改变,肾活检有新月体形成.7例患儿给予糖皮质激素(甲基泼尼松龙冲击)联合环磷酰胺治疗,1例进行糖皮质激素联合氨甲蝶呤治疗,患儿临床表现均有不同程度的改善.结论 儿童韦格纳肉芽肿临床表现多样,误诊率高;主要累及呼吸道及肾脏,ANCA检查有特异性;糖皮质激素结合免疫抑制剂治疗有效.  相似文献   

10.
婴幼儿期肾病综合征临床特点分析   总被引:2,自引:0,他引:2  
目的 探讨婴幼儿期原发性肾病综合征 (简称婴幼儿肾病 )的临床特点 ;分析婴幼儿肾病临床特点、免疫功能、病理分型和糖皮质激素 (简称激素 )疗效的关系。方法 对 31例婴幼儿肾病患儿进行临床观察 ;进行体液免疫和细胞免疫功能测定 ;14例接受肾穿刺活检 ;31例均采用激素中长程疗法 ,18例予以免疫抑制剂如环磷酰胺 (CTX)等联合治疗。结果 婴幼儿肾病临床以肾炎型肾病为主 ;体液免疫和细胞免疫功能下降 ;病理以非微小病变型为主 ;约 6 0 %患儿对激素治疗不敏感 ,需用激素与免疫抑制剂联合治疗。结论 婴幼儿肾病具有与其它儿童肾病综合征不同的特点 ,应当引起临床重视。  相似文献   

11.
Parents of children with a chronic illness that has a nutrition treatment component often report mealtime behavior problems. Although research suggests that parents of young children with type 1 diabetes mellitus (T1DM) perceive more mealtime behavior problems than parents of controls, no study has examined the pattern of mealtime behaviors reported by parents of children with T1DM. We examined parents' perceptions of mealtime behaviors of children with T1DM using the Behavioral Pediatric Feeding Assessment Scale (BPFAS). We hypothesized that parents of young children with T1DM would describe similar mealtime problems as has been found in families of children with clinical feeding problems. Data from 85 families of children with T1DM (mean = 5 +/- 1.5 years) were used. Factor analysis for children with T1DM identified a 6-factor solution. Four factors (child refusal, picky eater, stalling, food texture) were similar to factors identified in children with clinical feeding problems. Two unique factors, reflecting strict dietary requirements and intense disruptive behavior, were identified for children with T1DM. Consistent with our hypothesis, we conclude that patterns of mealtime behaviors appear similar for children with T1DM and children with clinical feeding problems. However, for young children with T1DM, unique problems exist, related to a strict feeding schedule consistent with the diabetes diet. Within routine diabetes care, the BPFAS is a valid and clinically useful tool to assess dietary adherence and mealtime behaviors in children. Monitoring via the BPFAS can identify families in need of behavioral interventions to improve mealtime functioning.  相似文献   

12.
目的探讨5岁以下婴幼儿糖尿病的临床特点、诊断及酮症酸中毒(DKA)的抢救措施。方法回顾性分析21例5岁以下婴幼儿糖尿病患儿的发病情况、临床特点、误诊情况,并探讨急救治疗体会。结果婴幼儿糖尿病临床症状不典型,糖尿病自身抗体阳性率低,初诊误诊率达52.4%,DKA发生率也高达52.4%。感染是诱发DKA的常见原因,患儿无1例死亡,1例放弃治疗,出院后治疗依从性不一。结论婴幼儿糖尿病多为特发性,临床症状不典型,易误诊、漏诊。感染可能导致患儿糖尿病的进展和临床表现出现。小剂量胰岛素持续静滴、调节酸碱平衡和纠正电解质紊乱是急救的关键。  相似文献   

13.
This study was aimed at testing the efficacy and innocuousness of a single dose of sodium valproate (SV) for the treatment of epilepsy, as compared with 3 daily doses. It was tested on 35 children, 5 to 15 years of age, presenting with the idiopathic form of generalized epilepsy. At the end of one year of treatment with 20 mg/kg/day of SV in 3 daily doses, the children were given a single dose at 8 PM daily. Every 3 months for a period of one year, patients were examined in order to monitor the clinical efficacy and side effects, liver function tests and serum levels of SV at 9 AM and 6 PM. Twenty patients who were well controlled with 3 daily doses had no fits with the single dose treatment. Ten patients, who had had one fit every 6 months during the observation year had no convulsions during the year on a single dose: however, 5 others who had had one fit every 6 months with 3 doses, had fits with the same frequency with the single dose treatment. There were no side effects. SV plasma levels at 9 AM were always higher than those at 6 PM. The efficacy of a single dose may result from the action of SV which increases the intra-cerebral levels of GABA, which are delayed and prolonged.  相似文献   

14.
儿童糖尿病198例   总被引:1,自引:0,他引:1  
目的 探讨儿童糖尿病(DM)的临床特点,为临床诊治提供理论依据.方法 对1999年1月-2009年3月在本院住院的198例DM患儿的临床表现和实验室检查进行回顾性临床分析.结果 198例DM患儿中,男97例,女101例.均为首诊病例;发病高峰年龄为5~6岁及9~11岁;首诊例数逐年增加,2008年较1999年增加了3.7倍;其中1型糖尿病(T1DM) 174例(占88.9%),2型糖尿病7例(占3.5%),新生儿DM 14例(占7.1%),其他3例(占1.5%).首诊的TlDM患者中,酮症酸中毒(DKA)的发生率为42.0%;发病前有感染史者55例,与无感染史者比较,DKA的发生率有统计学差异(P<0.01).有DM家族遗传史者23例.并甲状腺功能亢进症2例;并暂时性甲状腺功能减低症31例;并肝功能异常30例,肾功能异常12例,血脂异常48例,尿蛋白阳性27例.糖化血红蛋白为(12.0±1.8)%;共分析了25例T1 DM患者的自身抗体,胰岛细胞抗体阳性率为28%,胰岛素自身抗体的阳性率为20%,谷氮酸脱羧酶自身抗体(GADA)阳性率为72%.结论 首诊的儿童DM逐年增加,以T1DM为主;新生儿DM增加明显;DKA是T1DM患者就诊的重要原因;首诊的T1DM者中,感染是发生DKA的重要诱因;儿童DM常合并暂时性甲状腺功能减低症、肝肾功能异常及血脂异常;糖尿病自身抗体中GADA的阳性率最高.  相似文献   

15.
To estimate the number of children with rheumatic diseases, a questionnaire was distributed to the pediatrics department of 1290 hospitals in Japan in June 1994. From this survey, 1606 cases with juvenile rheumatoid arthritis (JRA), 906 cases with systemic lupus erythematosus (SLE), 320 cases with dermatomyositis/polymyositis (DM/PM), 28 cases with scleroderma (PSS), 70 cases with Sjögren's syndrome (Sjs), 93 cases with mixed connective tissue disease (MCTD), 25 cases with aortitis syndrome, 20 cases with polyarteritis (PN) and 51 cases with Behçet disease were reported. The crude annual incidence rates per 100 000 among the childhood population were estimated as JRA, 0.83; SLE, 0.47; DM/PM, 0.16; PSS, 0.01; Sjs, 0.04; MCTD, 0.05; aortitis syndrome, 0.01; PN, 0.01; and Behçet disease, 0.03. The present study reveals that there are more children with rheumatic diseases than are estimated from the reported cases in the literature and the number of children who are receiving Assistance Medical Costs Insurance covered by the Japanese government.  相似文献   

16.
BACKGROUND: In adults, a fraction of diabetic individuals with beta-cell autoantibodies has initially non-insulin requiring diabetes clinically appearing as type 2 diabetes mellitus (T2DM), named latent autoimmune diabetes in adulthood (LADA). The occurrence of beta-cell autoantibodies in European children and adolescents with T2DM has not been reported so far. METHODS: The frequency of beta-cell autoantibodies (anti-GAD, anti-IA-2, and anti-ICA) was determined in 7050 diabetic children and adolescents. The type of diabetes was classified by paediatric diabetic specialists based on the clinical presentation. Children with non-insulin dependent T2DM over a one year period were studied separately. RESULTS: A total of 6922 children were clinically classified as having type 1 diabetes (T1DM) and 128 children as having T2DM. Thirty six per cent of the children with T2DM had at least one detectable beta-cell autoantibody. These children did not differ significantly from the children with T2DM and without autoantibodies in respect of age, gender, weight status, lipids, blood pressure, C-peptide, glucose, and HbA1c at manifestation, as well as frequency of anti-thyroidal antibodies and insulin treatment during follow up. In the subgroup of the 38 children with T2DM without insulin requirement over a one year period, autoantibodies occurred in 32%. These 12 children were predominantly obese (67%), female (67%), and in the pubertal age range. CONCLUSION: beta-cell autoantibodies were detectable in a subgroup of initially non-insulin dependent diabetic children and adolescents with the clinical appearance of T2DM. Following the terminology "latent autoimmune diabetes in adulthood (LADA)", this subgroup might be classified as "LADY" (latent autoimmune diabetes in youth).  相似文献   

17.
AIM: To explore the relationships between tumor necrosis factor-alpha (TNFalpha), interleukin-6 (IL-6) and urinary N-acetyl-beta-D-glucosaminidase (NAG) and the function of renal proximal tubules in children with type 1 diabetes mellitus (DM1). METHODS: Fifty-six children with DM1 and 35 healthy controls were analyzed. We measured NAG (A and B isoforms) in urine as well as serum TNFalpha and urinary IL-6. RESULTS: The children with DM1 with microalbuminuria (group A) had significantly higher urinary IL-6 and serum TNFa than the children without microalbuminuria (group B). The diabetic patients with no sign of nephropathy showed significantly higher TNFalpha and NAG and its A and B isoforms in urine compared to the healthy group. Additionally, groups A and B both showed a positive significant correlation between serum TNFalpha and urinary isoform B. CONCLUSIONS: From our pilot results it appears that TNFalpha might be a sensitive marker of damage to the renal proximal tubules occurring prior to microalbuminuria. Conversely, the increase in NAG and its isoform B activity in patients with no clinical sign of diabetic nephropathy may indicate the onset of microalbuminuria.  相似文献   

18.
317 例儿童化脓性脑膜炎临床分析   总被引:3,自引:1,他引:2  
目的 研究化脓性脑膜炎(PM)患儿的临床特点及治疗转归。方法 对317 例年龄在1 个月至15 岁的PM 患儿的病例资料进行回顾性分析。结果 PM 发病以婴儿(198 例,62.6%)居多,多有呼吸道前驱感染(171 例,53.9%)。临床以发热、惊厥、颅内高压为主要表现,惊厥在婴儿中发生率较高(152 例,93.6%)。主要并发症为硬膜下积液(95 例,29.9%),其中22 例头颅影像学未提示而直接通过硬膜下穿刺诊断;68 例行硬膜下穿刺,其中62 例于穿刺后3~5 d 内体温恢复正常。多因素logisic 回归分析显示,年龄、CSF蛋白≥ 1 g/L 是影响PM 患儿并发症和后遗症发生的主要因素(分别OR=0.518、1.524,均P<0.05)。治疗上初诊时以第三代头孢为首选用药,万古霉素、碳青霉烯类可作为替代。在对部分患儿出院后1~3 个月的随访发现,14.4%(13/90)发生延迟血管炎反应。结论 PM 多发于婴儿,惊厥在婴儿中易发生。小婴儿、CSF 蛋白≥ 1 g/L 时会增加PM 患儿并发症和后遗症的发生风险。硬膜下穿刺对硬膜下积液的诊断及治疗均有价值。部分治愈患儿存在延迟血管炎反应,应在出院后1~3 个月内进行随访。  相似文献   

19.
The incidence of type 2 diabetes mellitus (T2DM) in children and adolescents has substantially increased over the past decade. This is attributed to obesity, insulin resistance and deficient beta-cell function. In children a pubertal increase in insulin resistance and an inability to mount an adequate beta-cell insulin response results in hyperglycemia. Adults with T2DM have a diminished first phase response to intravenous glucose and a delayed early insulin response to oral glucose. Long-term studies show progressive loss of beta-cell function in T2DM in adults; however, such long-term studies are not available in children. To characterize beta- and alpha-cell function in African-American adolescents with established T2DM, we used mixed meal, intravenous glucagon and oral glucose tolerance testing and compared them to obese non-diabetic controls. T2DM was defined as fasting C-peptide >0.232 nmol/l and absent autoimmune markers. BETA-CELL FUNCTION: Meal testing in 24 children and adolescents with T2DM, mean age 14 years, BMI 30 kg/m2, Tanner stage II-V, HbA1c 8.9%, were compared with BMI- and age-matched controls. Forty percent presented with DKA. Half were treated with insulin and half with diet/oral anti-diabetic agents. Although absolute C-peptide response in both groups was similar, the incremental rise in C-peptide relative to plasma glucose in the patients with T2DM compared to controls was 40% and 35% lower 30 and 60 min after the meal, p <0.007 and p <0.026. Glucagon testing in 20 pediatric patients with T2DM compared with 15 matched controls showed significantly lower 6 min stimulated C-peptide relative to the ambient plasma glucose in patients with T2DM compared to controls (0.039 +/- 0.026 vs 0.062 +/- 0.033, p <0.05). The clinical utility is that 78% of patients with a 6 min C-peptide <1.4 nmol required insulin, while 81% of those >1.4 nmol required oral anti-diabetic agents, p <0.0001. Furthermore, the duration of T2DM up to 5 years after diagnosis was associated with lower fasting and glucagon-stimulated C-peptide levels, implying worsening beta-cell function over time, even in children and adolescents. ALPHA-CELL FUNCTION: During meal testing, children and adolescents with T2DM had less suppression of plasma glucagon than non-diabetic controls; this was more severe with longer duration of T2DM and poorer glycemic control. BETA-CELL RECOVERY: In African-American and Hispanic adults, intensive treatment of blood glucose may achieve beta-cell recovery with 35-40% of newly diagnosed patients going into remission after 6 months treatment. They remain off anti-diabetic pharmacological agents in remission for a median of over 3 years with normal HbA1c levels. We hypothesize this to be due to removal of a critical component of glucose or lipotoxicity at the level of the beta-cell and/or peripheral tissue. Four of 20 African-American children presenting with mean glucose 650 mg/dl maintained normal HbA1c levels on small doses of metformin after initial treatment with multiple insulin injections with or without metformin. This suggests a marked recovery of beta-cell function, similar to that in adults. SUMMARY: T2DM in children, as in adults, is characterized by insulin deficiency relative to insulin resistance. Plasma C-peptide levels may be clinically useful in guiding therapeutic choices, since patients with lower levels required insulin treatment; beta-cell function is also diminished with longer duration of T2DM. The possibility exists that in children, as in adults, intensive glycemic regulation may allow for beta-cell recovery and preservation. Thus, optimum beta- and alpha-cell function are central to the prevention of DM and maintenance of good glycemic control in African-American and Hispanic children and adolescents with T2DM.  相似文献   

20.
目的 分析儿童1型糖尿病(T1DM)的临床特征,探讨该病对儿童生长发育的影响程度及后期并发症发生的情况。方法 对发病年龄在13个月至14.7岁,经实验室检查确诊为T1DM的210例患儿的临床特征进行了回顾性分性,并对99例患儿进行了1~24年的并发症、生长发育、死因随访。结果 因单纯糖尿病人院者47例(22.4%);伴酮血症入院者69例(32.9%);伴酮症酸中毒入院者94例(44.7%),其中农村患儿78例。起病时有诱因者43例,其中自停胰岛素15例。酮症酸中毒患儿住院时间明显比单纯糖尿病患儿长(P〈0.05)。随访的99例中出现各种并发症50例,其中以微血管病变发生率最高。病程长易并发各种并发症(P〈0.05),病后的监测方法与并发症的发生也明显相关。患儿组身高明显低于对照组(P〈0.05)。结论 酮症酸中毒是儿童糖尿病的基本特征;病程长易并发各种并发症;加强对儿童糖尿病患者的血糖检测和病后教育,将对儿童糖尿病的治疗起重要作用。  相似文献   

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