线粒体呼吸链复合物Ⅲ缺陷五例的临床特点与生化分析

目的 对5例线粒体呼吸链复合物Ⅲ缺陷患儿进行临床特点和生化分析.方法 对5例患儿(男3例,女2例)临床特点进行归纳总结,并抽取患儿静脉血,分取白细胞线粒体蛋白,采用分光光度测定法检测线粒体呼吸链复合物Ⅰ～Ⅴ活性.结果 (1)5例分别于1个月～15岁时来院就诊.其中3例临床表型符合Leigh综合征,主要表现为智力运动发育落后,运动倒退.l例表现为肝损害,胆汁淤积症.l例表现为进行性肌无力.(2)线粒体呼吸链复合物Ⅰ+Ⅲ活性为3.0～14.2 nmoL/(min·mg线粒体总蛋白),200名正常对照为84.4±28.5 nmol/( min·mg线粒体总蛋白),患儿酶活性降低至正常对照的10.4％～49.3％;复合物Ⅰ+Ⅲ与柠檬酸合酶活性比值为3.5％～22.9％,显著低于正常对照[(66.1±l4.7)％],复合物Ⅰ、Ⅱ、Ⅳ和Ⅴ活性正常,符合单纯线粒体呼吸链复合物Ⅲ缺陷诊断.结论 线粒体呼吸链复合物Ⅲ缺陷病临床表现复杂多样,累及多个系统;复合物Ⅰ+Ⅲ活性以及与柠檬酸合酶活性比值均低于正常对照,而所有患儿复合物Ⅰ、Ⅱ、Ⅳ和Ⅴ活性均未发现异常.     

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??Childhood and adolescence are key periods for bone development and mineralization. Bone diseases in childhood and adolescence can result in skeleton deformities, decreased adult height and changed peak bone mass. It would be very important to early diagnose and treat bone diseases in childhood and adolescence. According to the clinical manifestation, laboratory examinations and X-ray, bone diseases can be classified as metabolic bone disorders of calcium and phosphate, and genetic bone diseases. The pathogenesis, clinical manifestations, biochemical and radiological features of bone disease in childhood and adolescence were summarized. Progress in radiological examinations and treatment of these diseases were reviewed.     

Use of national health interview data to measure the burden of disease and injuries.

BACKGROUND: Although it is acknowledged that injuries place a substantial burden on populations throughout the world, few studies have measured the burden of non-fatal injuries and compared it with that of other health conditions. METHODS: Data for the adult population were obtained from the 2001 Spanish National Health Interview, a household telephone survey of the Spanish population. Differences in six measures of burden were compared for up to 11 conditions by age and gender. Proportions and their 95% CIs are reported. RESULTS: Injuries contribute 11-23% of the total health burden of the adult Spanish population, depending on which of the six indicators is used. They rank first and second out of the 11 conditions with regard to emergency visits and hospital admission, respectively. They rank third to sixth when other measures are chosen (ie, reduction in leisure activities, reduction in main activities, consulting a doctor, bedridden for half a day). Rheumatological, cardiovascular, and respiratory conditions are the only other conditions with a burden of comparable magnitude. CONCLUSION: In the adult Spanish population, injuries are an important cause of burden, regardless of the specific indicator used to define burden. These findings are likely to be equally applicable in similar countries. This type of comparison may raise the profile of injuries among health professionals and policy makers.     

IVIG对川崎病冠状动脉病变的预防及治疗作用分析

本文分析了292例川崎病患儿中25例发生冠状动脉病变(CAD)治疗过程中的药物选择、用药时间、用药方法、用药剂量及IVIG治疗冠状动脉病变的作用,提出IVIG是治疗川崎病(KD)预防CAD的首选药物。IVIG使用的最佳剂量为1～2g/kg·次×1次;最佳用药时间为≤7天,当CAD发生时间早、损伤程度轻时,IVIG剂量、时间、疗程适当就可能具有治疗CAD的作用。     

Non-malignant complications of coeliac disease

Patients with coeliac disease are at increased risk of developing complications which increase morbidity and mortality. Emphasis on malignant complications has often overshadowed the non-malignant risks, which have received relatively little attention, although some of these can be very troublesome and even life-threatening. This article points out that a large population of unidentified or neglected coeliac patients is at potential risk. The challenge is to identify this group by case-finding or screening programmes in selected populations, so that they can be offered a gluten-free diet and other treatments which will not only improve general health but may also prevent or reduce the development of health problems. The non-malignant risks are outlined and bone and neuropsychiatric disturbances considered in more detail because of recent developments in these areas.     

Symptomatic heart disease in infants: Comparison of three studies performed during 1969–1987

We compare the data of three studies of hospitalized infants with cardiac disease performed between 1967 and 1987. The studies were from the New England Regional Infant Cardiac Program (1967–1974), the Brompton Hospital (1973–1982), and the Northern Great Plains Regional Cardiac Program (1982–1987). Considering differences in classification among the studies, the distribution of cardiac anomalies during the first year of life is similar among the three studies. Although about 30% of infants are admitted during the first week of life and nearly 40% between 3 and 6 months, the proportion of infants admitted between 6 and 12 months was larger (25%) in the latest than in the earliest study (10%). There were also differences in the distribution of the diagnoses at various ages, reflecting changes in the patterns of care during the three eras.     

Castleman disease: a case with atypical presentation

Castleman disease is a benign lymphoproliferative disorder characterized by enlarged lymph nodes. In children the disease is rare, usually localized, and asymptomatic. Resection of the node is almost always curative. A case is reported that was diagnosed as hyaline vascular-type Castleman disease at 1 year of age. The disease recurred from infraclavicular region in addition to primary site, even though total excision was performed. Although the disease is mullticentric after recurrence, the patient has no systemic symptoms.     

Changing clinical features of coeliac disease

The classical clinical picture of coeliac disease includes prolonged diarrhoea with failure to thrive. During the past two decades this type of active presentation of coeliac disease has decreased in many European countries, giving the impression that coeliac disease is a disappearing disease. However, this is not true. The disease can be found in older children with a more or less silent presentation. Silent coeliac disease can be detected by active screening with serological tests. Coeliac disease can be suspected in children suffering from mild gastrointestinal symptoms, such as abdominal pain, and in those with signs of nutritional deficiencies, as well as in children of first-degree relatives of already diagnosed coeliacs, patients with IgA-deficiency, patients suffering from dental enamel hypoplasia or dermatitis herpetiformis, and patients with some other disease known to be associated with coeliac disease, such as diabetes mellitus. According to the fundamental criteria of coeliac disease, the intestinal mucosa is flat when the individual is eating gluten-containing foods. However, this is not strictly true. Intolerance to gluten is obviously variable and the intestinal mucosa may be normal. This type of latent coeliac disease can be detected by analysing genetic markers, measuring antibodies in intestinal fluid or counting the density of intra-epithelial gamma/delta T cells which are increased greatly even in the latent phase of coeliac disease. Thus the general concept of the natural history of coeliac disease is changing.     

Myocarditis and coronary dilatation in the 1st week of life: neonatal incomplete Kawasaki disease?

Acute heart failure in the early neonatal period is rare. Normally it is due to asphyxia, severe septicaemia, a congenital heart malformation or a viral myocarditis. Kawasaki disease (KD) as a cause of an neonatal myocarditis is not an established diagnosis. KD is a vasculitis of still unknown origin occurring predominantly in infants and preschool children. KD before the age of 3 months is rare. There are only few reports about KD in the 1st month. We present a newborn who showed the cardiac symptoms of KD in the 1st week of life with coronary dilatation and myocarditis. Conclusion The diagnosis of incomplete KD should be considered not only in infants but also in newborns with signs of myocarditis and coronary abnormalities. Therapy with gammaglobulins may prevent the sequelae of coronary involvement. Received: 29 April 1997 / Accepted: 21 November 1997     

Pulse methylprednisolone with gammaglobulin as an initial treatment for acute Kawasaki disease

Approximately 15–20% of patients with Kawasaki disease (KD) are not responsive to high-dose intravenous gammaglobulin (IVIG). We have previously reported a predictive method for identifying IVIG-non-responsive patients (high-risk KD patients). We determined the safety and effectiveness of pulse methylprednisolone with high-dose IVIG (mPSL+IVIG) as a primary treatment for high-risk KD patients. Sixty-two high-risk KD patients were treated with pulse methylprednisolone 30 mg/kg over 2 h, followed by IVIG 2 g/kg over 24 h (mPSL+IVIG group) and were compared with a historical control group of 32 high-risk patients treated with IVIG 2 g/kg alone at the participating hospitals before this study was opened (IVIG group). High-risk patients were identified with at least two of three predictors (C-reactive protein ≥7 mg/dL, total bilirubin ≥0.9 mg/dL or aspartate aminotransferase ≥200 IU/L). Sixty-six percent (95% confidence interval [CI] 54–78%) of patients had a prompt defervescence in the mPSL+IVIG group compared with 44% (95% CI 26–62%) for the IVIG group (p = 0.048). Coronary artery lesions were observed in 24.2% (95% CI 13.2–35.2%) and 46.9% (95% CI 28.6–65.2%) of patients in the mPSL+IVIG and IVIG groups, respectively (p = 0.025). This is the first report showing that mPSL+IVIG is effective and safe as a primary treatment for high-risk KD patients.     

溶酶体贮积症的骨改变

遗传代谢病（inherited metabolic disorders，IMD）是一大类以生化代谢通路中的酶、辅酶或转运体等功能缺陷为特征的单基因遗传病，已命名的IMD近1500种。溶酶体贮积症是由于溶酶体内多种酶、酶激活因子或溶酶体膜蛋白基因变异所致的一大类以多系统损害为特征的遗传代谢病。以黏多糖贮积症为代表的多种溶酶体贮积症可出现特征性的多发性骨发育代谢障碍。该文简要介绍一些以骨改变为特征的溶酶体贮积症。     

先天性巨结肠RET基因突变及相关疾病分析

先天性巨结肠（Hirschsprung‘s disease,HD)是常见的先天性消化道畸形。其病因尚未明了,最近研究表明原癌基因RET的突变在HD发病中起主要作用。方法：采集30例散发性先天性巨结肠和30例正常儿童的全血标本,提取基因组;采用聚合酶链反应（PCR）和单链构象多态（SSCP）技术分析RET基因的第6、10、16外显子。结果：2例患儿存在第10外显子的突变。其中1例家庭中有MEN2A患者;1例患儿存在第16外显子的突变。结论：RET基因突变可能是导致先天性巨结肠发生的重要原因之一。MEN2A和先天性巨结肠的发生可能有一定联系。     

儿童累及呼吸系统罕见病治疗进展

罕见病是指在人群中发病率和患病率极低或患病人数很少的一组疾病，多与遗传因素有关，约50%于儿童期发病，且多为终身疾患。其中部分疾病主要累及呼吸系统或以呼吸系统症状起病，如囊性纤维化、联合免疫缺陷病、肺泡蛋白沉积症等。对症治疗是此类疾病的基础治疗。近年来，随着医学发展，很多罕见病发病机制得以进一步明确，其治疗也取得进步，部分患者可获得更有针对性的治疗，如分子矫正治疗、替代治疗、基因治疗等，使得此类患者的生存期得以延长，生活质量得以提高。     

Nemaline myopathy in the neonate: two case reports

Nemaline myopathy, one of the most benign myopathies in older children and adults, may be rarely associated with early death in the neonate. The authors report two cases, describing the ante-and postnatal clinical courses. Family history may help in establishing the diagnosis, but this was not the case in the two infants described. Above all, the diagnosis is based on the results of muscle biopsy.Conclusion Nemaline myopathy may lead to early death in the neonate.     

以心血管疾病就诊的先天代谢性疾病

在心血管疾病患儿接诊中，先天代谢性疾病并不罕见，当患儿首诊为心肌病、心律失常、心肌酶谱异常、瓣膜病、先天性心脏病、肺高血压、高血压等疾病时都需要鉴别是否存在先天代谢性疾病的病因。这些患儿的心脏疾病往往具有一定特点，或进展更为迅速，伴多器官系统受累。在治疗心血管疾病的同时针对先天代谢性疾病予以有效治疗是改善疾病预后的关键。     

NEUROAXONAL DYSTROPHY IN CHILDHOOD Report of Two Second Cousins with Hallerworden-Spatz Disease, and a Case of Seitelberger's Disease

ABSTRACT. Three late infantile cases of neuroaxonal dystrophy are presented, two of them second cousins with Hallerworden-Spatz disease and one sporadic case with Seitelberger's disease. At about 1 1/2 years of age the patients with Hallerworden-Spatz disease developed clinical signs including progressive extrapyramidal motor disorder and mental retardation. They died at 8 and 11 years. Iron deposits and axonal dystrophy were found in the pallidum. The changes are compared to those in a case of infantile neuroaxonal dystrophy (Seitelberger's disease), the first to be reported in Scandinavia.     

The prenatal environment and later cardiovascular disease

Exposure of an embryo or fetus to a sub-optimal environment increases its risk of acquiring coronary disease and heart failure in adult life through a process known as programming. For example, stress experienced in utero and during early postnatal life imparts an increased vulnerability for adult onset cardiovascular disease. Programming is a change in gene expression pattern that occurs in response to a stressor and leads to altered growth of specific organs during their most critical times of development. Known stressors include improper nourishment, hypoxia and excess glucocorticoids. Programming becomes evident through a number of risk factors that are only now becoming understood, including growth patterns in childhood, structural and cellular changes to the heart and coronary vessels, impaired endothelial function, and altered lipid metabolism. Thus, adults most vulnerable for coronary artery disease may have experienced rapid weight gain in childhood and now have dyslipidemias and depressed endothelial function.     

儿童泌尿系统疾病研究进展

2010年我国儿科肾脏病专业工作者在临床疾病的诊疗、发病机制及基础研究等各方面进行了大量的探索性工作,在国内外专业期刊上发表较多临床以及基础研究的学术论文,下面对其中部分具有代表性的论文进行复习,以求反映我国儿肾医师、专家对该领域相关问题的思考和科学研究工作状况。1原发性肾小球疾病     

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2011年我国儿科肾脏病专业医师在临床疾病的发病机制、治疗、预测疾病预后以及基础研究等方面进行了大量的工作,下面对部分具有代表性的论文进行复习,以汇总我国儿科肾脏专业在2011年的工作以及成绩,为今后开展持续性工作,或创新性工作提供参考。