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1原发性免疫缺陷病1.1流行病学随着对原发性免疫缺陷病(primary immunodeficiency disease,PID)认识的提高和诊疗技术的发展,越来越多的PID儿童被发现。全球的PID发病情况在2011年通过JeffreyModell基金会的全球64个国家的230个中心(http://www.info4pi.org)的资料汇总得到了一些有价值     

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??Abstract?? The treatment of SLE becomes standard in recent year. Serious complications caused by infection become the leading cause of death in SLE?? more than renal involvement and lupus encephalopathy. SLE co-infection mainly connects with the defects in humoral immunity and cellular immunity. And also connect with the disease activity?? the dose of hormone and immune inhibitor.     

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1惊厥与癫痫发作性疾病,尤其是癫痫的诊断、治疗及机制探讨,一直是小儿神经病学的热点和难点问题。近年来随着视频脑电监测技术的日益完善,以前国内较少认识的癫痫综合征不断得到总结报道。邓劼等[1]系统总结了47例肌阵挛失张力癫痫(myoclonic atonic epilepsy,MAE)的临床和脑电图     

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??Proteinuria occurs mainly due to increased filtration of plasma proteins through glomerular capillary wall and/or incapability of renal tubular reabsorption of small molecular proteins. Significant advances have been made in study on glomerular filtration barrier in recent years. Now endothelial surface layer and subpodocyte space have been accepted as new layers of whole glomerular filtration barrier??and more and more podocyte molecules have been found to play a causative role or participate in the occurrence of proteinuria.     

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??Cough is an important protective reflex. However?? the recurrent and severe cough may disturb the rest and life and may even lead to the complications??such as pneumothorax?? rupture of bronchi??mediastinal emphesema and so on. Exploration of the cough pathogenesis helps the management of cough. The accurate cough pathogenesis is unclear at present. The progress of the cough pathogenesis is necessary to be summarized.     

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溶血尿毒综合征(hemolytic uremic syndrome,HUS)是由多种病因引起的微血管病,临床表现为微血管内溶血、血小板减少和急性肾衰竭等。本病各年龄均可发生,以婴幼儿常见,是该年龄期急性肾衰竭最常见的原因之一,在存活者中有24%~63%发展为进行性慢性肾衰竭(chronic renalfailure,CRF),也是小儿CRF常见的病因之一。该病1955年首先由Gasser等描述,目前认为该病与感染(特别是大肠埃希菌O157∶H7等肠道感染)、药物(青霉素类、保泰松、环孢素、5-氟尿嘧啶、丝裂霉素等)、免疫缺陷、恶性肿瘤、遗传(补体因子H缺陷)等诸多因素有关。本病可分为典…     

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??Congenital abnormalies of the kidney and urinary tract??CAKUT?? are the main cause of chronic kidney disease ??CKD?? in childhood. Congenital hydronephrosis is a common type of CAKUT and is usually detected by prenatal renal ultrasonography. Severe congenital nephrosis can cause renal injury and end-stage renal disease??ESRD??. The etiology of congenital nephrosis is complicated and involves the abnormal expression of multiple genes. Studies on human tissue specimens and animal models show that oxidative stress?? chronic inflammation and apoptosis result in renal tubular atrophy and renal fibrosis. With advanced biological techniques such as proteomics?? new biological markers are emerging for early disease detection and the choice of the optimal treatment and monitoring.     

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临床上70%～80%的癫(癎)经合理的抗癫(癎)药物治疗可控制发作,但仍有20%～30%的癫(癎)发作不能得到控制,其中睡眠障碍作为一个潜在的影响因素而在近年引起人们的重视.     

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铅是一种存在于环境中的神经毒元素。虽然近些年来人们做了不少努力,比如限制含铅油漆的使用,降低汽油中的铅含量等等,但是环境中的铅污染依然存在,铅中毒仍然是儿童环境健康的首要问题。生长发育期的中枢神经系统对铅的毒性特别敏感。铅在大脑中引起的损害主要集中在一些特殊的区域,例如大脑皮层的额前区、海马回和小脑。铅中毒的一些特征性临床表现正是与这种特殊部位的特点密切相关。多年来,国内外众多学者对铅的神经毒理机制作了大量的研究,现汇总如下。1铅对血脑屏障的破坏血脑屏障很易受到铅毒性作用的损害,但其如何损害血脑屏障内皮…     

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??For pediatric epilepsy??there is a high comorbidity rate of psychiatric disorder which will affect the patient’s studies and life. Moreover?? this kind of comorbidity will not only decrease the quality of life??but also put more burden on family. Although with such a high rate of comorbidity??there is a low diagnostic rate and few can achieve successful treatment on time. The unclear classification of the symptoms of epilepsy and psychiatric disorder and the lack of accurate measurements should account for this phenomenon. However??the related researches are still insufficient. This article focuses on the advance of comorbidity rate??symptoms??diagnosis and treatment of pediatric epilepsy with psychiatric disorder.     

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??Hypertrophic cardiomyopathy??HCM?? is one of the leading causes of sudden cardiac death??SCD?? in children and young adults. The incidence of HCM in adults is 1/500??which is mainly coding sarcomere-associated protein gene mutations. The most common are MYH7 and MYBPC3. The incidence of HCM in children is unclear??and the etiology is more complicated. The clinical manifestations are highly heterogeneous. There are many kinds of non-sarcomere mutations??including metabolic storage diseases??RASopathies??neurodegenerative diseases and mitochondrial diseases. Up to now??more than 40 genes are associated with pediatric HCM. Multiple modes of inheritance account for HCM??among which autosomal dominant inheritance is the most common mode. Others include autosomal recessive??X-linked??and mitochondrial inheritance.