血友病特定出血部位的治疗

血友病作为先天遗传性出血性疾病,出血为其主要表现.最常见的出血部位为关节、肌肉.颅内出血、消化道出血将危及生命,而特殊部位(如眼部、咽喉部等)出血也十分重要.对血友病患儿出血的正确识别和恰当治疗至关重要,将减少致死致残,提高患儿生活质量.本文介绍血友病患儿的几个特定部位的出血治疗.     

血友病患儿的围手术期治疗

血友病是儿科常见的遗传性出血性疾病,包括血友病A(凝血因子Ⅷ缺乏)和血友病B(凝血因子Ⅸ缺乏).患儿有自发出血或轻微损伤、手术后出血不止的倾向.本文简单介绍血友病患儿在手术需要时,术前诊断及分型、凝血因子动态监测、制剂选择、输注剂量和疗程等围手术期相关问题,以指导血友病患儿的手术和术后康复.     

儿童血友病诊疗建议

血友病是一组遗传性出血性疾病,为X性联隐性遗传.临床上分为血友病A(凝血因子Ⅷ缺陷症)和血友病B(凝血因子Ⅸ缺陷症)两型.临床特征为关节、肌肉、内脏和深部组织自发性或轻微外伤后出血难止,常在儿童期起病.儿科对血友病的识别、诊断,积极、合理治疗十分重要.     

血管性假性血友病2例报告

作者最近见到2例有鼻出血,关节出血、遗传性出血倾向、出血时间延长、第Ⅷ因子减少并有输血后有效之血管性假性血友病(von Willebrand 病)。1926年 von Willebrand 发表遗传性假性血友病,指出除男女皆可患病外,其特征有三,出血时间延长,血小板数和形态正常,毛细血管脆性试验可阳性。1933年因证明血小板性质异常,改称为体质性血     

治疗模式与血友病颅内出血综述

<正>血友病作为一种遗传性出血性疾病,早在两个世纪前就被认识和逐步了解。血友病A和B分别是由凝血因子Ⅷ(FⅧ)和Ⅸ(FⅨ)缺乏造成的。据血液中凝血因子的活性水平,血友病被分类为:重型(<1%),中间型(1%~5%)和轻型(5%~25%)[1]。血友病患者的主要临床表现多以出血为主,其出血部位可发生在任何部位,以关节和肌肉出血多     

儿童血友病危重症急救处理

血友病是一组遗传性出血性疾病,普通门诊和急救科医务人员通常缺乏血友病诊治经验,常常被延误诊断,丧失最佳治疗时机而引发各种并发症,甚至危及生命。因此,提高对这组疾病的认识,建立针对血友病的诊断、鉴别诊断和急救诊疗流程十分必要。特别是如何识别未获诊断的出血性疾病患儿并及时对这类患儿进行出血程度评估,及时做出诊断和给予合理治疗方案以防止相关并发症的发生。     

血友病的紧急处理

血友病是最常见的遗传性凝血因子缺乏的疾病,包括血友病A(血友病球蛋白缺乏症,AHG缺乏症,第Ⅷ因子缺乏症),血友病B(血浆凝血活酶成份缺乏症,PTC缺乏症,第Ⅸ因子缺乏症)和血友病C(血浆凝血活酶前质缺乏症,PTA缺乏症,第Ⅺ因子缺乏症)。本病因严重出血危及生命或反复关节出血致残。因此,必须对血友病的出血采取紧急处理。临床表现全身各部位均可出现自发或轻度损伤后的程度不等的出血。如发生渗血可持继数小时、数天、数周之久。出血部位:1.粘膜:算衄、牙龈出血,舌尖破损出血。2.自发或外伤后皮下或肌肉血肿:多见于阴囊、大腿和臀部。3.关节出血:见于重型和中型患者,最常见于膝、踝和肘,次为髋、     

儿童血友病预防治疗的研究进展

血友病是一种遗传性出血性疾病,包括血友病A及血友病B,多于儿童时期起病.长期反复出血易导致关节畸形,而按需治疗并不能逆转关节损伤,因此血友病的预防治疗逐渐受到重视.预防治疗旨在预防关节出血及关节病的发生,提高生存质量.目前已有多项临床试验证实了预防治疗的有效性.然而,预防治疗在最佳方案的选择、抑制物的产生、高昂的治疗费用等方面也面临着一些问题.     

血友病B因子Ⅸ基因重复点突变的研究

血友病Ｂ因子Ⅸ基因重复点突变的研究王宁遂，邓兵，朱静血友病Ｂ是一种性联遗传性出血性疾病，由于因子ＩＸ（ＦＩＸ）基因缺陷导致ＦＩＸ蛋白凝血活性降低所致。我们采用聚合酶链反应（ＰＣＲ）和双链ｂＮＡ循环测序技术，对两例血友病Ｂ的基因缺陷进行了研究，发现两个...     

儿童血友病诊疗建议解读

血友病是一种缺乏凝血因子Ⅷ或因子Ⅸ的性染色体连锁的隐性遗传性出血性疾病,大规模的流行病学调查显示血友病的发病率为(15～20)/10万人口,无明显地区和种族差异[1],我国人口13亿,推算患者数量巨大,但截至2007年,中国注册的血友病患者仅8000余人,因此目前我国血友病误诊和漏诊的比例可能较高.据报道,我国血友病患儿初次出血多在1岁左右,但初次诊断年龄却为5岁左右[2-3],明显晚于初次出现症状的年龄.     

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。     

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.     

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.     

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.     

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.     

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。     

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