系统性血管炎早期识别

系统性血管炎是一组以血管炎为共同病理改变、多器官受累的疾病。可累及全身多器官系统的各级血管,临床表现多样,且缺乏特异性。总结儿童常见系统性血管炎的临床表现、诊断标准,旨在提高儿科医师对疾病的认识,早期发现及合理诊治,以改善预后。     

正确认识儿童系统性血管炎

儿童系统性血管炎是一组以血管炎为共同病理变化、多器官受累为主的疾病,广泛累及多系统大、中、小血管。文章就儿童系统性血管炎分类、发病机制、临床表现、诊断以及分期治疗进行详述,同时介绍丙基硫氧嘧啶(PTU)相关性血管炎,提高临床医师对此类疾病的认识。     

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??Mitochondrial disease is a heterogeneous group of hereditary diseases caused by the defects in the mitochondrial respiratory chain and abnormal cellular energy metabolism. Heart is one of the most common organs involved??and hypertrophic cardiomyopathy is the most common and important type of cardiac involvement in mitochondrial disease. Hypertrophic cardiomyopathy in the patients with mitochondrial disease with childhood onset is more common than those with adulthood onset. Mortality in children with cardiac involvement caused by mitochondrial disease is significantly higher than that in children without cardiac involvement??so the early diagnosis and treatment is very important. But the early diagnosis is still difficult due to the complexity of clinical manifestations of mitochondrial disease. There is no specific treatment for mitochondrial disease and its associated hypertrophic cardiomyopathy??so supportive therapy is still the main treatment.     

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??Kawasaki disease is an acute self-limited vasculitis. Timely and accurate diagnosis and treatment can significantly reduce the incidence of coronary artery dilatation or coronary artery aneurysm.However??there are difficulties in the diagnosis and treatment of Kawasaki disease for the time being. We need to make efforts to further improve the accuracy of diagnosis??early predict and identify the high risk population of refractory Kawasaki disease and coronary aneurysm??and optimize the initial treatment of stratified patients according to the coronary risk they are facing. We should constantly promote the experience of long-term follow-up management of Kawasaki disease so as to improve the level of diagnosis and treatment.     

儿童韦格纳肉芽肿的临床和病理分析

目的 探讨儿童韦格纳肉芽肿(WG)的临床和病理特点.方法 收集本院2例和全国其他7例WG患儿,对其临床表现、实验室检查、影像学特点以及治疗进行分析.结果 9例患儿中男6例,女3例,平均年龄12岁,从发病到确诊的平均时间为8.3个月.有多系统、器官受累,以肾脏和肺最为常见.7例患儿进行抗中性粒细胞胞浆抗体(ANCA)检查,c-ANCA和抗PR3抗体阳性6例.8例患儿进行了组织活检,病理表现有实质组织坏死、肉芽肿和血管炎等.多数患儿接受糖皮质激素和环磷酰胺治疗后病情明显改善.结论 WG可侵犯多个组织器官,临床表现缺乏特异性,ANCA检查是早期诊断的关键.     

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??Objective To analyze the clinical characteristics of critical values in NICU and help to make the proper diagnosis and treatment plans of NICU. Methods Retrospective analysis was performed on all the critical values in NICU collected from July 1st??2012 to November 30th??2012 in Children′s Hosptial of Chongqing Medical University. The gestional ages and birth weights of these babies?? consitituent ratio of critical index?? distribution of report time and clinical response and the impact on treatment were analyzed. Results There were 212 newborns with 369 items of time critical values?? and the rate of positive impact on management was 65.04%. Imaging tests??81 cases??22.0%????blood glucose??79 cases??21.4%?? and routine coagulation tests??77 cases??20.9%??were the most common critical values. Sample quality was the common cause of false positive critical values. Conclusion Periodically analyzing and summarizing critical values data could help to make a more reasonable critical value system and improve clinical work efficiency and quality.     

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??Abstract?? Isolated hematuria is a common disease which nephrologists encounter in clinical work.The causes of isolated hematuria predominantly include IgA nephropathy?? Alport syndrome and thin basement membrane nephropathy.Renal biopsy is not recommended for all patients unless specific indications are present. However?? we value the long term follow-up assessment in order to improve prognosis.     

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??Objective To analyze the clinical features?? mutation types?? treatment and outcomes of methylmalonic acidemia combined with homocysteinemia??MMA-HC?? in children??in order to improve the clinical understanding of this disease.
Methods The clinical data??mutation types??treatment and outcomes of 11 children with MMA-HC were retrospectively analyzed to find the relationships of clinical phenotypes and genotypes with the prognosis of the early-onset??≤1 year?? and late-onset ????1 year?? patients. Results In the 9 early-onset children with more serious clinical manifestations??the major gene mutation type was c.609G??A and C.658_660delAAG??the mutation types of 2 cases of late-onset children were c.482G??A/c.609 G??A and c.394C??T/c.80A??G compound heterozygous mutations. The children with C.609G??A/c.658_660delAAG compound heterozygous mutation in early-onset patients had poorer clinical manifestations and prognosis. In contrast??the other early-onset children were relatively good. After treatment??the prognosis of late-onset children were usually good. Conclusion Combined-type MMA children have various clinical manifestations and individual differences. Seizures??lethargy??feeding difficulty and no increase of weight are the common symptoms in early-onset children??while in late-onset patients there is occult onset??chronic mental disorders??mental retardation and weakness of two legs. Early treatment with hydroxycobalamin can significantly improve the clinical symptoms in the children??but the prognosis still depends on the clinical phenotype and genotype.     

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目的分析22例流行性乙型脑炎(乙脑)患者临床资料,总结乙脑的临床及影像学特征,丰富乙脑诊治经验。方法收集2011年1月至2011年12月广州市妇女儿童医疗中心神经康复科住院的22例乙脑患儿临床资料,分析发病特征、临床体征、影像学特征。对病例资料采用描述性分析的统计学方法。结果临床特征方面:22例乙脑患者除均表现出高热、意识障碍、惊厥、肢体瘫痪外,其中4例还表现出帕金森综合征的症状及体征。影像学方面:22例中21例表现出双侧丘脑受损,具有帕金森综合征表现的4例除双侧丘脑受累外,还有中脑大脑脚受损的影像学证据。结论乙脑除病毒性脑炎常见临床表现外,部分病例表现出帕金森综合征症状及体征,丘脑及中脑受累是乙脑的特征性影像学改变。     

Early diagnosis of renal tubular diseases

??Hereditary renal tubular disease is insidious and the incidence is relatively low. Renal tubular disease is easy to be overlooked or misdiagnosed due to lack of specific clinical manifestation. The most common clinical manifestations of hereditary renal tubular are hypokalemia??hypercalciuria??polyuria??rickets??and growth retardation. If it is not timely treated??once the renal involvement happened??renal function impairment is generally inconvertible. Therefore??we should pay more attention to the early diagnosis of renal tubular diseases. In order to make early diagnosis??emphasis should be attached to the detailed history??the laboratory examination of renal tubular function series??and the diagnosis clues to hypercalciuria-related renal tubular diseases. It’s necessary for clinical physicians to pay attention to the early diagnosis of tubular diseases in order to perform early intervention and improve prognosis.