川崎病专题讨论会纪要

川崎病（Kawasakidiseases,KD）是一种主要发生在5岁以下婴幼儿的急性发热出疹性疾病,属急性自限性血管炎综合征,其发病率有逐年增高趋势,在发达国家或地区,KD所致的冠状动脉病变（coronaryarterylesions,CAL）已取代风湿热成为小儿最常见的后天性心脏病,并且可能成为成年后缺血性心脏病的危险因素之一。KD病因及免疫发病机制仍未完全清楚,大量流行病学及临床观察提示KD可能是感染因素所致的急性免疫调节紊乱,遗传因素亦与KD发病相关。已报道多种细菌、病毒、支原体及其代谢产物（如链球菌和葡萄球菌超抗原）等与KD发病有关,但目前仍未检测到致KD的单一病原微生物。感染导致免疫活性细胞（如T细胞、单核／巨噬细胞）异常活化,所产生的细胞因子可能参与血管内皮损伤及干扰自身免疫耐受。[第一段]     

川崎病患儿生长因子及生长转化因子变化与冠状动脉直径相关性的研究

目的研究川崎病(KD)患儿血清可溶性血管内皮生长因子(sVEGF)和生长转化因子β1(TGF-β1)与冠状动脉直径的关系,探讨其参与冠状动脉损伤的机制。方法研究对象为2007年1月至2009年1月期间在山东大学齐鲁儿童医院住院治疗、发生冠状动脉扩张的KD急性期患儿30例。使用双抗体夹心酶联免疫吸附法(ELISA),测定KD患儿sVEGF和TGF-β1,并与冠状动脉的直径进行相关性分析。结果 KD患儿急性期sVEGF和TGF-β1明显高于恢复期,且在急性期,此两项指标与冠状动脉直径呈正相关。结论 sVEGF和TGF-β1在KD冠状动脉损伤形成中发挥重要的生理病理作用,其机制可能与其促进血管内皮的损伤有关。     

合并冠状动脉瘤的非典型川崎病5例

非典型川崎病（KD）病例近年来有增多趋势。对于合并冠状动脉瘤（CAA）的KD患者延误诊断和治疗可能导致严重的后果。本文报道5例会并冠状动脉瘤的非典型川崎病，以引起临床医师重视。临床资料一、一股资料男3例，女2例，年龄4个月～1.5岁3例，4岁、5岁各1例。临床表现：发热≥5     

感染因素对川崎病及其冠状动脉病变的影响

目的 探讨感染因素对川崎病(KD)及其冠状动脉病变的影响。 方法 回顾性收集首都医科大学附属北京儿童医院2005年1月至2014年12月出院诊断中包含KD的病历,截取人口学信息、临床发现、急性期和后遗症期超声心动图发现、转归,对每份病历重新行典型KD、不完全KD、IVIG抵抗、冠状动脉病变及其程度和合并感染的甄别。分为KD感染组、KD非感染组分析组间临床发现的差异,分为冠状动脉病变组、非冠状动脉病变组分析感染因素的差异。 结果 2 331例KD患儿进入分析。KD合并感染的发生率为57.1% (1 331/2 331),KD并发冠状动脉病变的发生率为36.0%(840/2 331)。KD感染组与KD非感染组年龄、发热天数及不完全KD比例差异有统计学意义(P均<0.05);冠状动脉病变组与非冠状动脉病变组肺炎支原体感染及消化系统感染伴发腹泻比例差异有统计学意义(P均<0.05)。 结论 合并感染的KD患儿年龄多<1岁,易表现为不完全KD,合并肺炎支原体感染及消化系统感染伴发腹泻的KD患儿易发生冠状动脉病变。     

川崎病急性期中性粒细胞功能及S100蛋白表达的变化

目的 观察中性粒细胞在川崎病（KD）急性期的功能及S100 A8/A9蛋白表达的变化，并探讨其意义。方法依据纳入标准和排除标准选取2006年11月至2007年7月在复旦大学附属儿科医院住院的KD患儿为研究对象，选取同期手术患儿为本研究对照组。通过二氢若丹明荧光染色法分析KD患儿中性粒细胞功能，并用荧光定量PCR法检测KD患儿中性粒细胞S100 A8/A9 mRNA表达。结果共纳入KD患儿32例,其中男19例,女13例,年龄2个月至7岁2个月，平均（2.1±1.9）岁。冠状动脉损害者6例，无冠状动脉损害者26例；对照组手术患儿20例。KD急性期中性粒细胞明显活化，使用IVIG治疗后中性粒细胞活化百分比下降。KD急性期中性粒细胞S100 A8/A9 mRNA的表达增加；IVIG治疗后，无冠状动脉损害患儿，S100 A8/A9 mRNA表达明显降低，冠状动脉损害患儿S100 A8/A9 mRNA表达升高。结论 KD急性期中性粒细胞活化，并存在相关的活化蛋白高表达，提示中性粒细胞可能参与了KD的发病机制。且在冠状动脉损害患儿中性粒细胞S100 A8/A9 mRNA持续高表达，提示中性粒细胞可能参与冠状动脉损害。     

川崎病冠状动脉病变严重程度临床分级及高危因素研究

目的 探讨基于临床分级的川崎病（KD）冠状动脉病变临床分级特点及不同危险等级冠状动脉病变的危险因素。方法 采用回顾性调查方法,对复旦大学附属儿科医院2000年1月至2011年6月住院且病史资料完整的1253例KD患儿,依据《川崎病冠状动脉病变的临床处理建议》提出的冠状动脉病变临床分级方法,分析冠状动脉病变临床分级及病变部位特点,采用单因素和多因素Logistic回归分析发生不同临床分级冠状动脉病变的危险因素。结果 （1）KD患儿急性期冠脉病变发生率为24.3%（304/1253）。根据冠状动脉病变临床分级进行分类,冠脉正常的Ⅰ级病例949例,占75.7%;Ⅱ级32例,发生率2.6%;Ⅲ级251例,发生率20.0%;Ⅳ级13例,发生率1.0%;Ⅴ级8例,发生率0.6%。（2）累及单支、双支、三支、四支冠状动脉者分别占冠状动脉病变患儿的42.4%、29.3%、16.1%和12.2%;发生病变的冠状动脉分支中左主干、左前降支、左回旋支、右冠状动脉病变分别占43.5 %、18.6%、6.8 %、31.1 %。（3）多因素Logistic回归分析显示,不完全型KD、CRP＞100 mg/L是Ⅱ级冠状动脉病变的独立危险因素;男性、年龄≤1岁、发热持续时间＞10 d、不完全型KD、ALB＜30 g/L是发生Ⅲ～Ⅴ级病变的独立危险因素。结论 （1）KD冠状动脉病变以Ⅲ级为最多见,占82.6%;V级最少见,占2.6%。（2）57.6%的冠状动脉病变累及二支或二支以上的冠状动脉。（3）KD冠状动脉病变部位以左冠状动脉主干最常见,其后依次为右冠状动脉、左前降支和左回旋支。（4）男性、年龄≤1岁、发热持续时间＞10 d、不完全型KD、ALB＜30 g/L是Ⅲ～Ⅴ级冠状动脉病变的独立危险因素。     

与川崎病有关的细胞因子基因多态性

川崎病(KD)是一种以全身血管炎为主要病理变化的疾病,好发于5岁以下的婴幼儿,其发病机制至今尚未完全阐明。细胞因子是由多种细胞特别是免疫细胞产生的具有免疫调节和效应功能的蛋白质或小分子多肽。研究表明,KD患儿免疫系统处于激活状态,多种细胞因子水平存在明显异常,并参与KD发生发展的过程,某些细胞因子基因多态性与KD易感性、并发冠状动脉损害及难治性KD有关。现就多种细胞因子水平在KD中的变化及其在KD中的作用进行综述,并重点探讨与KD相关的细胞因子基因多态性。     

川崎病并发冠状动脉病变的超声心动图表现的动态观察

目的 探讨川崎病(KD)所引起的冠状动脉扩张(CAD)以及冠状动脉瘤(CAA)的超声心动图特点.方法 用彩色多普勒超声心动图检测KD患儿冠状动脉开口和内径,并动态观察静脉免疫球蛋白治疗前后冠状动脉内径的变化情况.结果 本组46例KD患儿,41例患儿行超声心动图检查,合并CAD 12例,左冠状动脉(LCA)较右冠状动脉(RCA)更易受累及(P<0.05);CAA 4例,均为双侧冠状动脉病变,最大内径10 mm.治疗后6～18 d复查超声心动图,CAD组LCA较治疗前明显回缩(P<0.05),RCA内径无变化(P>0.05);CAA组LCA和RCA内径均无明显变化(P>0.05).对10例冠状动脉病变患儿进行随访,其中8例CAD冠状动脉内径均恢复正常,1例CAA冠状动脉病变加重,1例CAA完全恢复正常.结论 (1)在KD所引起的CAD中,LCA比RCA更易受累及,静脉免疫球蛋白治疗后短期内LCA明显回缩.(2)超声心动图是动态观察KD并发CAD和CAA的无创手段.     

川崎病患儿血脂代谢变化的检测及分析

一般资料:川崎病(KD)组为我院1999年6月至2 0 0 2年1月收治的5 0例KD患儿,男30例,女2 0例,年龄4个月至6岁,平均(2 7 1±6 6 )个月,所有患儿均符合1984年日本川崎病委员会修订的KD诊断标准。其中4 3例分别在入院时至病程6周内用HP 10 0 0型超声仪检测冠状动脉2～3次,发现冠状动脉病变10例。冠状动脉病变包括冠状动脉扩张(7例,冠状动脉内径>3mm)和冠状动脉瘤(3例,冠状动脉呈瘤样扩张或冠状动脉内径/主动脉内径≥0 3)。正常对照组2 0例,男12例,女8例,年龄5个月至7岁,平均(2 9 5±7 8)个月,为本院健康体检儿童,近3个月无感染病史。感染疾…     

单中心9年不完全川崎病回顾性分析

目的 探讨不完全川崎病（KD）的临床特征,以提高临床诊治水平。方法 回顾性分析2002年1月至2010年12月KD住院患儿的临床资料,比较不完全KD与典型KD在发病年龄、性别、临床表现、实验室检查、治疗及冠状动脉损害等方面的差异。结果 1 484例KD患儿进入分析,其中不完全KD 262例(17.6%),典型KD 1 222例;<1岁患儿中不完全KD占24.9%。不完全KD和典型KD患儿的平均发热时间分别为（7.8±5.0）和（6.7±3.6）d,差异有统计学意义。不完全KD 四肢改变、多形皮疹、眼结膜充血、口唇改变、颈部淋巴结肿大和肛周改变的发生率显著高于典型KD;卡疤改变、扁桃体肿大、阴囊或外阴改变、呕吐和腹泻的发生率与典型KD差异无统计学意义。两组CRP、ESR、Hb、WBC、PLT、ALT、AST、CK-MB和LDH等实验室指标差异无统计学意义。不完全KD与典型KD患儿对IVIG无反应的发生率差异无统计学意义（14.1％ vs 17.5％）;不完全KD患儿冠状动脉扩张、冠状动脉瘤和巨大冠状动脉瘤的发生率分别为57.5%、14.1％和1.9%,典型KD患儿分别为31.5%、5.9% 和0.6%,两组差异有统计学意义。结论 不完全KD较典型KD发热时间长,且冠状动脉损害发生率高,但实验室指标差别不大。     

Wilson's disease

Wilson's disease (WD), an inborn error of copper (Cu) metabolism, is now one of the leading liver diseases in children in India. The clinical presentation can be extremely varied viz.,--all forms of acute and chronic liver disease, minimal to severe neurological disease, psychiatric problems, bony deformities, hemolytic anemia and endocrine manifestations. A high index of suspicion is necessary along with a judicious battery of investigations for diagnosis. Hepatic copper estimation is the most reliable test but is not easily available in India. Liver biopsy may not be possible because of bleeding problems and histological features are often not diagnostic of WD. In the absence of hepatic Cu, a low ceruloplasmin, high 24 hour urinary copper and presence of KF rings aid in making the diagnosis. The mainstay of initial therapy is Cu-chelators like D-Penicillamine, and Trientine for reduction in body copper to sub-toxic levels. Subsequent maintenance therapy is necessarily lifelong with D-Penicillamine, Trientine or Zinc. Children on therapy must be monitored regularly for response, side-effects, compliance and rehabilitation. Response to therapy may be unpredictable, but acute and early presentations like fulminant hepatic failures have a poor outcome. All siblings must be screened for WD as early diagnosis and treatment result in a good outcome. The identification of the WD gene on chromosome 13 has led to the possible use of molecular genetics (haplotype and mutational analyses) in the diagnosis of WD. Parent groups/associations must take active part in holistic management of WD.     

The relationship of juvenile lumbar disc disease and Scheuermann's disease

Between 1969 and 1979 five children were found to have lumbar disc disease and were evaluated for clinically unsuspected thoracic spine abnormalities. Of these five children, two had Scheuermann's disease and one had disc space narrowing associated with Schmorl's nodes. One other had narrowed disc spaces without bony defects, and one had a normal thoracic spine. A unitary concept of childhood lumbar disc disease, Schmorl's nodes and Scheuermann's disease is suggested.     

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。     

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.     

Surgery for gastroesophageal reflux disease with Gaucher disease type 2

Gaucher disease, the most common lysosomal storage disease, is sometimes complicated with gastroesophageal reflux disease (GERD). The present patient was a 136‐day‐old Japanese boy with Gaucher disease type 2. Enzyme replacement therapy and chemical chaperone therapy were successful for the skin disorders, joint contractures, hepatosplenomegaly and thrombocytopenia, but he also had GERD. Accordingly, a Nissen fundoplication with gastrostomy was performed. There was no vulnerability of organs, easy bleeding or difficulty of maintaining the visual field because of hepatosplenomegaly during operation. In the perioperative period, there was no prolonged wound healing or infection. GERD was improved. In the near future, the number of long‐term survivors of Gaucher disease will increase due to improvements in medical therapy. Therefore, it is expected that the number of patients requiring fundoplication will also increase. In patients with successful medical therapy, surgical fundoplication can be safely and effectively performed.     

Ӥ�׶������Է�ʵ�ʼ���/�μ��ʼ�������

??Abstract??The literature is becoming progressively populated by reports of diffuse parenchymal lung disease/interstitial lung disease??DPLD/ ILD?? that appear distinct to infants and young children. The classification?? clinical features?? management and outcome for these disorders are briefly mentioned.     

Free sialic acid storage disease

Increased amounts of free sialic acid were found in cultured fibroblasts and urine of a 4-year-7-month-old Italian boy with mental retardation, hypotonia, failure to thrive, coarse facial features, convergent strabismus, pale skin and fair hair. Ultramicroscopic examination of conjunctival and skin tissues showed a number of membrane-bound vacuoles containing low-density granular material in the cytoplasm of the fibroblasts. The clinical, biochemical and ultrastructural findings are similar to those described in Salla disease. Neuraminidase activity is normal. The molecular basis of the sialic acid storage disease is not known. Evidence for defective transport of sialic acid across the lysosomal membrane has been demonstrated in the patient's fibroblasts. It is possible that this might represent the metabolic abnormality.