川崎病并发巨噬细胞活化综合征二例及文献复习

巨噬细胞活化综合征（MAS）是风湿性疾病的一种严重并可威胁生命的并发症。MAS最多见并发于幼年特发性关节炎全身型（SOJIA）、川崎病（KD）、系统性红斑狼疮（SLE）、皮肌炎等其他风湿性疾病并发MAS的报道近年逐渐增多,因此应提高幼年特发性关节炎（JIA）之外的儿童风湿病并发MAS的认识和警惕。现将我院收治的KD并发MAS2例报道如下。     

肾上腺糖皮质激素在幼年特发性关节炎中的应阳进展

幼年特发性关节炎(juvenile idiopathic arthritis,JLA)是儿童常见的风湿性疾病,其范畴是指起病年龄<16岁的儿童慢性关节炎,其中包括了幼年类风湿性关节炎.JIA可分为以下7型:全身型,多关节炎型(类风湿因子阳性和阴性),少关节炎型,银屑病型关节炎,与附着点炎症相关的关节炎(ERA)和其他关节炎[1].其均以周围关节滑膜炎伴软组织肿胀、渗出为特点,部分病例出现关节强直、畸形或半脱位而导致关节功能障碍,此外尚可伴有全身多器官受累,JIA是造成小儿致残和失明的首要原因,尤其是全身型JIA死亡率高,预后差,因此对于JIA的早期诊断、及时有效治疗十分重要.     

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目的探讨抗环瓜氨酸肽(CCP)抗体检测在幼年特发性关节炎(JIA)诊断中的意义。方法对华中科技大学同济医学院同济医院2002-06—2004-08收治的JIA患儿66例、其他风湿病患儿11例及正常儿童29名,运用酶联免疫吸附试验(ELISA)方法检测血清中抗CCP抗体,比较各组抗CCP抗体阳性率,并探讨抗CCP抗体在诊断JIA中的意义。结果66例JIA患儿中抗CCP抗体阳性率为16·7%(11/66),其中类风湿因子(RF)阳性多关节型阳性率为57·1%(4/7),RF阴性多关节型为19·0%(4/21)、少关节型为23·1%(3/13),22例全身型和3例附着点炎相关关节炎(ERA)患儿,抗CCP抗体均为阴性。其他风湿病患儿组和对照组抗CCP抗体亦为阴性。JIA组与正常对照组抗CCP阳性率比较有统计学意义(P<0·05),其中多关节型及少关节型与正常对照组比较亦有统计学意义,而其他亚型与正常对照组比较无统计学意义。结论抗CCP抗体尚不能作为JIA早期诊断的新的可靠的血清学指标。抗CCP抗体主要见于JIA多关节型和少关节型,推测抗CCP抗体对JIA分型及预后评价可能有指导意义。     

以间质性肺疾病为首发表现的幼年特发性关节炎1例报告

幼年特发性关节炎(juvenile idiopathic arthritis,JIA)是儿童时期常见的风湿性疾病,是一类侵犯关节等多系统的自身免疫性疾病.JIA分为全身型、多关节炎型、少关节炎型,可伴有肺、心血管、眼等部位受累.本文报告l例以间质性肺疾病(interstitial lung disease,ILD)为首...     

幼年特发性关节炎28例诊断治疗分析

目的　探讨幼年特发性关节炎 (JIA)临床特点及治疗。方法　总结 2 8例JIA患儿的临床表现、实验室和影像学检查结果 ,以国际风湿病学联盟 (ILAR)儿科专家组新的分类标准讨论稿 (加拿大埃得蒙顿 ,2 0 0 1)进行分析。结果　全身型JIA 7例 ,用非甾体类消炎药 (NSAIDs)治疗 ,3例有效 ,2例部分效应 ,2例无效 ;部分效应和无效者加用糖皮质激素治疗 ,其中 1例联合甲氨蝶呤 (MTX)治疗。少关节型JIA 2例 ,以NSAIDs治疗。多关节型JIA类风湿因子 (- ) 4例 ,多关节型JIA类风湿因子 (+) 2例 ,用NSAIDs联合MTX治疗 ,以MTX维持治疗。与附着点炎症相关性关节炎 13例 ,以NSAIDs联合柳氮磺吡啶 (SASP)治疗 ,其中 2例加用MTX ,2例并发虹膜睫状体炎加用糖皮质激素 ,以SASP维持治疗。结论　JIA中 ,与附着点炎症相关性关节炎最为多见 ,其次为全身型JIA ;治疗应依据临床分型 ,联合用药并注意个体化 ;MTX对各型JIA均有较好疗效。     

幼年特发性关节炎37例

目的探讨幼年特发性关节炎(JIA)的临床特点及治疗方法。方法按照国际风湿病学联盟(ILAR)新的分类标准对JIA患儿进行分型,总结37例JIA患儿的临床表现、实验室和影像学检查结果及药物治疗及其转归。结果全身型22例(59.46%),少关节型7例(18.92%),多关节型5例(13.51%),其他关节炎型3例(8.10%)。全身型以非类固醇性抗炎药(NSAIDs) 缓解病情抗风湿药物(DMARDs) 激素治疗为主,其中8例加用细胞毒药物(CTX);少关节型、多关节型及其他关节炎型以NSAIDs DMARDs 小剂量激素治疗,基本能够控制病情,无1例发生关节功能障碍。结论JIA以全身型最多见,其次为少关节型;JIA治疗应提倡早期联合治疗,以尽快控制炎症,改善病情,防止残疾发生。     

川崎病患儿血清脑利钠肽的水平改变及其与肌钙蛋白Ⅰ的对比分析

目的 通过观察川崎病(KD)患儿脑利钠肽(BNP)的水平变化,并与肌钙蛋白Ⅰ(cTrⅠ)比较,探讨其在KD早期诊断中的作用.方法 选择住院KD患儿21例作为研究对象,20例健康体检儿童作为对照组.对KD组及对照组采用酶联免疫吸附法测定血浆BNP、cTnⅠ浓度,并行心脏多普勒超声检查测定冠状动脉内径.结果 KD患儿血浆BNP水平[(517.26±213.40)μg/L]明显高于对照组[(37.55±7.56)μg/L],差异有非常显著性(P＜0.01);cTnⅠ浓度[(0.31±0.17)μg/L]也高于对照组[(0.13±0.04)μg/L],差异有显著性(P＜0.01).KD患儿BNP异常率(100%)明显高于cTnⅠ(47.7%),差异有非常显著性(P＜0.01);冠状动脉病变组血浆BNP、cTnⅠ水平明显高于非冠状动脉病变组;典型KD患儿及不完全型KD患儿BNP及cTnⅠ血浆水平间差异无显著性(P＞0.05).结论 KD患儿血浆BNP、cTnⅠ浓度均明显升高,而BNP具有更高的特异性及灵敏度.血浆BNP水平测定有助于KD的诊断,尤其是不完全型KD早期诊断.     

血清抗环瓜氨酸肽抗体对幼年特发性关节炎和成人类风湿关节炎诊断意义的比较

目的 比较分析幼年特发性关节炎(JIA)和成人类风湿关节炎(RA)患儿血清抗环瓜氨酸肽(CCP)抗体水平,探讨抗CCP抗体在JIA诊断中的价值和意义.方法 2009年2- 12月首都儿科研究所风湿免疫科确诊的JIA患儿72例.男33例,女39例;年龄(7.58 ±3.93)岁,全身型29例,少关节型27例,多关节型16例.同期在中国人民解放军总医院风湿科确诊的RA患者共65例.男14例,女51例;年龄(47.38±14.28)岁.健康对照组22例,为同期健康查体儿童.男10例,女12例;年龄(14.10±0.38)岁.选用英国Axis- shield Diagnostics Limit公司、德国欧蒙公司和上海富莼科芯公司生产的CCP抗体ELISA检测试剂盒,分别检测JIA患儿、RA患者和健康儿童血清CCP抗体水平.结果 英国Axis- shield Diagnostics Limit公司检测JIA患儿血清抗CCP抗体的阳性率为12.5％(9/72例),RA患者血清阳性率高达73.85％(48/65例),健康对照组无阳性(0/22例).RA患者血清抗CCP抗体阳性率显著高于JIA患儿(P＜0.01),其中JIA组中多关节型阳性率31.25％(5/16例),少关节型阳性率14.8％ (4/23例),全身型阳性率为0(0/29例),差异有统计学意义(P＜0.001).另2家公司试剂盒检测结果.HA患儿血清抗CCP抗体的阳性率为15.3％(11/72例),RA患者血清阳性率为73.85％ (48/65例),健康儿童无阳性.RA患者血清和健康儿童血清结果3家公司检测试剂盒完全一致.JIA患儿3种抗CCP抗体试剂盒检测结果之间差异无统计学意义(P＞0.05).结论 ELISA方法检测血清抗CCP抗体水平较为稳定可靠,抗CCP抗体在JIA患儿中血清阳性率低于成人RA,抗CCP抗体在JIA各亚型分布差异显著,抗CCP抗体与多关节型相关.     

幼年特发性关节炎全身型并发巨噬细胞活化综合征一例

巨噬细胞活化综合征（MAS）为儿童慢性风湿性疾病少见但凶险的合并症,近来国外有所报道,国内病例尚少报道,我科2003年12月收治1例幼年特发性关节炎（JIA）全身型合并MAS,现报告如下。     

血清葡萄糖-6磷酸异构酶测定在幼年特发性关节炎中的临床意义

目的了解血清葡萄糖-6磷酸异构酶(G6PI)在多关节型和少关节型幼年特发性关节炎(polyar-thritis and oligoarthritis JIA,pJIA and oJIA)及系统性红斑狼疮(SLE)患儿中的表达水平,以阐明其对pJIA和oJIA的诊断价值。方法 JIA组30例、SLE组19例和健康组37名。应用酶联免疫吸附试验(ELISA)测定三组儿童血清G6PI浓度,比较三组血清G6PI浓度、G6PI阳性率。结果 JIA组血清G6PI浓度为(0.15±0.11)μg/ml,SLE组为(0.22±0.41)μg/ml,健康对照组为(0.17±0.28)μg/ml,三组比较差异无统计学意义(P>0.05)。各组G6PI高浓度例数均为2例,各组间相比差异无统计学意义(P>0.05)。结论血清G6PI浓度测定不适用于辅助诊断关节病变为主的JIA。     

Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: First results of ETA®

There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. Cetirizine has several antiallergic properties that suggest a potential effect on the development of airway inflammation and asthma in infants with atopic dermatitis. Methods. Over a two year period, 817 infants aged one to two years who suffered from atopic dermatitis and with a history of atopic disease in a parent or sibling were included in the ETAC^® (Early Treatment of the Atopic Child) trial, a multi-country, double-blind, randomised, placebo-controlled trial. The infants were treated for 18 months with either cetirizine (0.25mg/ kg b.i.d.) or placebo. The number of infants who developed asthma was compared between the two groups. Clinical and biological assessments including analysis of total and specific IgE antibodies were performed. Results. In the placebo group, the relative risk (RR) for developing asthma was elevated in patients with a raised level of total IgE (≥ 30 kU/I) or specific IgE (≥ 0.35 kUA/I) for grass pollen, house dust mite or cat dander (RR between 1.4 and 1.7). Compared to placebo, cetirizine significantly reduced the incidence of asthma for patients sensitised to grass pollen (RR = 0.5) or to house dust mite (RR = 0.6). However, in the population that included all infants with normal and elevated total or specific IgE (intention-to-treat - ITT), there was no difference between the numbers of infants developing asthma while receiving cetirizine or placebo. The adverse events profile was similar in the two treatment groups. Discussion. Raised total IgE level and raised specific IgE levels to grass pollen, house dust mite or cat dander were predictive of subsequent asthma. Cetirizine halved the number of patients developing asthma in the subgroups sensitised to grass pollen or house dust mite (i.e. 20% of the study population). In view of the proven safety of the drug, we propose this treatment as a primary pharmacological intervention strategy to prevent the development of asthma in specifically sensitised infants with atopic dermatitis.     

Resurgence of measles in Singapore: profile of hospital cases

OBJECTIVE: To ascertain the profile of cases of measles seen at a general hospital during a recent outbreak that occurred despite a measles vaccination program. METHODOLOGY: A retrospective study from January 1991 to March 1998. All patients with measles (ICD code 055. 9) seen at the emergency unit or as inpatients were included. RESULTS: There were 87 cases identified. The diagnosis was clinical in all and proven serologically in 71%. Eighty-five per cent of the cases occurred between January 1997 and March 1998. There was a bi-modal age distribution with peaks in the very young (相似文献   

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孤独症谱系障碍(autistic-spectrum disorders,ASDs)近年来患病率逐年攀升至1%左右,其症状往往伴随终生,成为严重威胁儿童健康和发展的神经发育性疾患;注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)是儿童期最常见的精神障碍,国内报道患病率为4.13%～5.83%,其症状可延续至青少年期,甚至到成年期[1]。这两类精神障碍在成年期的临床表现、共患病、治疗策略和预后与儿童期有哪些不同呢?本文通过回顾相     

EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE

During the past several decades, our understanding of the complex pathophysiology of vasoocclusion associated with sickle cell disease has improved greatly. Interaction of genes, hemoglobin molecules, red cell membrane and metabolic changes, cell-cell interactions and cell-plasma interactions, red cell adhesion to vascular endothelium, activation of coagulation, and vascular reactivity play a role in vaso occlusion. Penicillin prophylaxis of pneumococcal infections and appropriate use of blood transfusions and other supportive measures improved survival of sickle cell patients. Hydroxyurea made a major impact on sickle cell therapy when it was shown to decrease acute painful episodes, acute chest syndrome, and the need for blood transfusion in adults. Significant experience in the use of hydroxyurea has been accumulated in older children. The benefits and risks of hydroxyurea for younger children and long-term risks in all patients will be evaluated in future investigations. Other promising therapies include butyrate compounds, clotrimazole, magnesium supplementation, poloxamer 188, antiadhesion agents, anticoagulant approaches, and nitric oxide. Hemopoietic transplantation remains the only curative therapy. However, several transgenic mouse models are available for studies of gene therapy or other treatment approaches on biochemical, cellular, and pathologic effects of mutant genes.     

Infiltrations of Epstein-Barr virus-carrying cells in granular lymphocyte-proliferative disorders corresponding to chronic active Epstein-Barr virus infection

A 21-year-old man with granular lymphocyte-proliferative disorders (GLPD) associated with chronic active Epstein-Barr virus (EBV) infection is described. Chromosomal analyses revealed several clonal abnormalities and two of them were mainly repetitious. High copy numbers of monoclonal EBV genome were also detected in the proliferative large granular lymphocytes (LGLs), indicating the monoclonal expansion of EBV-infected LGLs. The patient had an indolent course for several years, and there was no evidence of infiltrations of his bone marrow until the end stage. At autopsy, microscopic studies revealed marked infiltrations of LGL in the liver and spleen, and the infiltrating cells were NK-cell immunophenotype. The infiltrated LGLs showed latency I.     

LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the replacement of Asp-578 by Gly due to the substitution of A by G at nucleotide position 1733. All activating mutations are present in exon 11 which encodes the transmembrane domain of the receptor. Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). Both germline and somatic activating mutations of the LHR have been found in patients with testicular tumors. Activating mutations have no effect on females. The molecular genetics of the inactivating mutations of the LHR are more variable and include single base substitution, partial gene deletion, and insertion. These mutations are not localized and are present in both the extracellular and transmembrane domain of the receptor. Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism. Severity of the clinical phenotype in LCH patients correlates with the amount of residual activity of the mutated receptor. Females are less affected by inactivating mutation of the LHR. Symptoms caused by homozygous inactivating mutation of the LHR include polycystic ovaries and primary amenorrhea.     

A profile of respiratory symptoms in urban and rural South Australian school children

This report describes the cross-sectional analyses of data from the first year of a longitudinal study using questionnaire and respiratory function data over a 5 year period from a sample of rural South Australian school children. The cumulative or lifetime prevalences of respiratory symptoms were estimated in 825 rural and 1261 urban school children aged between 5 and 15 years in order to determine if the prevalence rates differed between rural and urban school children. The study found the overall cumulative prevalence of asthma and/or wheezy breathing (AWB) to be 24.1% in the rural school children compared to 27.6% in the urban school children. Most children developed AWB symptoms before the age of 7 years, with 20% reporting moderately severe symptoms and 10% having more than one attack per fortnight. The cumulative prevalence of bronchitis, loose/rattly cough (BLRC) differed significantly between the rural school children (34.1%) and urban school children (47.9%). The BLRC symptoms preceded the development of AWB in many cases. Urban school children also reported a higher prevalence of atopic conditions.     

Personality profiles and heart rate variability (vagal tone) in children with recurrent abdominal pain

The aim of the study was to explore psychological factors and autonomic activity in children with recurrent abdominal pain and to compare them with those in a control group of healthy children. The Personality Inventory for Children was used for assessment of developmental, emotional and psychosocial factors in 25 children with recurrent abdominal pain (age, 7-15 y). Parasympathetic and sympathetic functions in these children and in 23 healthy control subjects (age, 7-13 y) were also investigated, non-invasively using a computerized polygraph. Vagal tone (parasympathetic function) was indexed by calculation of respiratory sinus arrhythmia in beats/min. Skin conductance (sympathetic function) was recorded by the constant current method. On the Personality Inventory for Children, 16 patients had high scores on somatic concern. Several patients had scores in the clinical range for depression, withdrawal and anxiety, but the mean scores for these personality profile scales were well within the normal range of healthy children. Interestingly, there was a spike on the L (Lie)-scale for most of the patients and 15 patients had scores above or close to the clinical cut-off value. As compared with the scores in healthy children, vagal tone and sympathetic tone were normal. Conclusion: Many children with recurrent abdominal pain have scores in the clinical range for depression, withdrawal, anxiety and L-scale indicating coping problems, denial and a trend towards somatic concern that may contribute to the evolution of abdominal pain. Autonomic nerve activity was not disturbed in these children.     

Hauttemperaturen verschiedener Körperoberflächenareale des Rumpfes bei Säuglingen

Summary In two groups of infants (3–53 weeks old) skin temperatures were controlled in different areas of the trunk—i.e.: regions of sternum, lungs, heart, liver, spleen, kidneys—at different room-temperatures (group I: 21–25°C; group II: 29–32°C). Rectal temperatures of some probands in both groups also had been controlled simultaneously. A definite change in the reaction to heat was proofed in different periods of the first year of life. In higher environmental temperatures the skin temperature was almost constant at every controll-point of the skin, even in older infants. In lower environmental temperatures the skin temperatures lowered continuously with age till 7. to 9. moth. From 10. to 12. month the lowering of skin temperature discontinued. The rectal temperatures were relatively constant in all infants. Only in infants from 7. to 12. month, whose skin temperatures were controlled in lower as well as in higher environmental temperatures, a tendency to higher rectal temperatures was proofed in warmer environmental temperatures.The significance of these results is discussed.

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Untersuchungen mit Unterstützung durch die Deutsche Forschungsgemeinschaft.