尿渗透压检测在小儿遗尿症中的应用

目的探讨尿渗透压检测在儿童遗尿症诊治中的应用价值。方法50例原发性遗尿儿童,于治疗前测定夜间尿量及尿渗透压、夜间血清抗利尿激素（AVP）,并给予口服去氨加压素（DDAVP）治疗,根据DDAVP的治疗反应分为有效（DR）35例,无效（DNR）15例。30例正常儿童对照组,测定夜间尿量和尿渗透压。结果遗尿儿童夜间尿渗透压与夜间尿量呈负相关（r=-0.506,P〈0.05）,与夜间AVP呈正相关（r=0.725,P〈0.05）。DR儿童夜间尿渗透压水平为（682.71±213.95）mOsm/L,尿量为（265.14±164.48）ml,血清AVP浓度为（4.06±1.66）pg/ml;DNR患儿夜间尿渗透压水平为（1085.00±88.88）mOsm/L,尿量为（125.33±50.97）ml,血清AVP浓度为（7.27±1.48）pg/ml。两者比较差异均有统计学意义（P〈0.001）。结论遗尿儿童夜间尿渗透压与尿量、血清AVP浓度有相关性。夜间尿渗透压可反映遗尿儿童夜间AVP的分泌水平。夜间尿渗透压降低的遗尿儿童夜间AVP分泌不足,对DDAVP治疗疗效好,尿渗透压的测定对选择DDAVP治疗有参考价值。     

TGF-β1在儿童原发性IgA肾病肾损害中的临床意义

目的 探讨转化生长因子-β1（TGF-βl）在儿童原发性IgA 肾病（IgAN）患儿肾损害中的临床意义。方法 选择2008 年5 月至2012 年10 月间经肾活检诊断为原发性IgAN 的30 例儿童为研究对象,另30例健康儿童作为对照组。采用酶联免疫吸附实验（ELISA）法检测其血和尿中TGF-β1 的浓度,免疫组织化学法检查肾组织中 TGF-β1 蛋白的表达,并进行血、尿和肾组织中的 TGF-β1 三者之间及其与各临床指标间的相关性分析。结果 原发性 IgAN 患儿血、尿的 TGF-β1 均高于对照组,差异有统计学意义（Pr=0.557,P=0.001）;肾脏组织中 TGF-β1 的表达与肾组织病理分级密切相关,且随着其病理分级的增加而增加（r=0.682,Pr=0.038, P=0.844）。结论 IgAN 患儿尿TGF-β1 的值与IgAN 病理分级的严重程度相关,临床检测尿TGF-β1 可能对评定慢性肾病进展及判断预后有重要的实用价值。     

儿童急性早幼粒细胞白血病76例随访报告

目的 探讨儿童急性早幼粒细胞白血病(APL)的治疗及预后,并评估砷剂在儿童APL中的疗效.方法 对76例初治APL患儿进行疗效及预后相关因素分析.采用SPSS10.0软件进行统计学分析.结果 本组76例APL患儿,6例早期死亡.其余70例患儿依据诱导方案的不同分成3组:1组44例,单用全反式维甲酸(ATRA);2组7例,单用三氧化二砷(As_2O_3);3组19例,联合应用ATRA和As_2O_3.1组的完全缓解率为100%,2组+3组的完全缓解率为100%.6例临床复发,2例分子生物学复发,复发部位均为骨髓.5年累计复发率为13.8%,5年累积无事件生存(EFS)率、无病生存(DFS)率、总生存(OS)率分别为79.5%、86.3%和90.5%.在1组与2组+3组之间的5年EFS、DFS没有明显差异.初诊时白细胞计数可能是影响儿童预后最主要的因素.结论 ATRA治疗儿童APL疗效好.砷剂治疗儿童APL的疗效亦较好,耐受性好.砷剂可以用于不能耐受ATRA副作用的患儿,亦可用于初治和复发的儿童APL.     

肾病综合征患儿血清25-羟维生素D的影响因素分析

目的了解肾病综合征(NS)患儿维生素D营养状况,并分析其影响因素。方法以2012年1月1日至12月31日华中科技大学同济医学院附属同济医院儿科收治的初诊或复诊NS患儿为NS组,体检儿童为对照组。根据血清25-羟维生素D［25(OH)D］水平判断维生素D营养状态,≤20 ng·mL-1为维生素D缺乏。从NS患儿病史中截取可能影响25(OH)D的因素行维生素D缺乏的单因素分析和Logistic回归分析;同时对25（OH）D的影响因素行多元线性回归分析。 结果NS组139例,男103例,女36例,年龄(6.1±3.7)岁;对照组83例,男49例,女34例,年龄(3.1±2.0)岁。①NS组和对照组血清25(OH)D水平分别为(10.3±7.5)和(29.4±9.9) ng·mL-1,差异有统计学意义(P<0.000 1)。维生素D缺乏检出率NS组和对照组分别为86.3%和19.3%,差异有统计学意义(P<0.000 1)。②单因素分析结果显示,NS病程、24 h尿蛋白定量、糖皮质激素累积剂量和使用时间、血清钙在维生素D缺乏和不缺乏NS患儿间差异有统计学意义;Logistic回归分析显示,体重Z评分(OR=0.151,95%CI:0.035~0.649)、NS病程(OR=0.143, 95%CI:0.035~0.592)和大量24 h蛋白尿(OR=28.177,95%CI:3.295~240.970)与维生素D缺乏相关。③多元线性回归显示,男性、24 h尿蛋白定量、血清钙和每公斤体重糖皮质激素累积剂量与血清25(OH)D水平相关(P<0.05)。④27例NS患儿服用阿法骨化醇前和3个月后均行血清25(OH)D水平检测,治疗前和治疗后分别为(7.2±5.0)和 (14.9±11.0) ng·mL-1,差异有统计学意义(P=0.001)。 结论NS患儿血清25(OH)D低于健康儿童,有部分可能与蛋白尿水平、NS病程和糖皮质激素累积剂量等因素相关,口服阿法骨化醇可提高血清25（OH）D水平。     

苯丙酮尿症儿童脑部磁共振成像与临床生化的相关性

目的探讨苯丙酮尿症（PKU）患儿临床及生化与MRI异常改变的关系,评价常规MRI在PKU脑部病变中的价值。方法经临床生化证实为PKU患儿12例。其中4例为新生儿筛查证实,其后接受正规低苯丙氨酸（Phe）饮食治疗;8例未经任何治疗。12例均接受1.5TMRI扫描仪头部检查,应用T2WI、T1WI序列,且对T2WI上异常高信号进行分级,与智商（IQ）、血Phe质量浓度进行相关分析。结果未经治疗的PKU患儿均表现为脑白质T2WI异常高信号,呈斑片状、对称性分布,见于顶枕部脑室周白质。代表白质病变严重程度的MRI分级与血Phe质量浓度（r=-0.537 P〉0.05）及IQ（r=-0.279 P〉0.05）无相关性;血Phe质量浓度与IQ值亦无相关性（r=0.412 P〉0.05）。结论PKU患儿IQ低或血Phe高与常规T2WI上的异常范围并不成正比;常规MRI可很好显示PKU脑部病变,能为临床诊断及监控治疗提供帮助。     

备孕人群膳食叶酸营养状况横断面调查

目的调查上海市备孕人群膳食叶酸摄入量、膳食叶酸来源和血液叶酸水平,并评估上海市备孕人群的叶酸营养状况。方法采取横断面整群抽样的方法对在上海市闵行区妇幼保健院孕前门诊接受孕前检查的备孕夫妇进行调查。采用连续3 d 24 h膳食回顾法和食物频率表法对研究人群的膳食状况进行调查。应用《孕前膳食营养素补充剂调查表》调查研究对象近3个月的叶酸等营养素补充剂使用情况。采集空腹静脉EDTA抗凝全血和非抗凝血各5 mL,通过化学发光微粒子免疫法检测血清叶酸浓度及红细胞叶酸浓度。结果共纳入研究对象535例,女性276例（51.6%）、男性259例,平均年龄（29.4±4.1)岁。研究人群平均膳食叶酸摄入量为296.3 μg·d-1,503例（94.0%）低于推荐摄入量,女性和男性的平均膳食叶酸摄入量分别为 267.2和327.3 μg·d-1。血清叶酸水平中位数为5.8 ng·mL-1,血清叶酸缺乏率16.3%;红细胞叶酸水平中位数为214.6 ng·mL-1,红细胞叶酸缺乏率为87.3%。女性血清叶酸浓度（7.0 ng·mL-1 vs 4.8 ng·mL-1）及红细胞叶酸浓度（231.2 ng·mL-1 vs 193.7 ng·mL-1）显著高于男性（P＜0.001）。结论上海地区备孕人群中,绝大多数人群处于红细胞叶酸缺乏的状况,膳食叶酸摄入量低于推荐值。     

三氧化二砷治疗急性早幼粒细胞性白血病7年随访

目的研究治疗剂量三氧化二砷（As2O3）对小儿急性早幼粒细胞性白血病（APL）的疗效和特点。方法对21例初治APL患儿静脉滴注As2O3进行诱导缓解,诱导剂量0.15-0.33 mg/（kg.d）,诱导总量45-720 mg。诱导治疗时间为30-106 d。巩固治疗主要应用化疗,主要以As2O3进行维持治疗,总疗程2-3 a。系统观察其不良反应。随访持续时间5-88个月。结果21例初治APL患儿达完全缓解（CR）13例（61.9%）;部分缓解（PR）7例（33.3%）,经化疗最后均达CR;不缓解（NR）1例。21例治疗期间无死亡,复发率9.5%,无瘤生存率（DFS）为85.7%。18例APL均处于CR中,随访持续时间5-88（37.3&#177;23.6）个月,其中12例已停止用药,停药时间1-51个月,8例停药者进行了PML/RARα融合基因检测,均为阴性。未见髓外白血病发生。主要不良反应包括胃肠道反应、肝功能损害、高白细胞综合征等。治疗相关不良反应轻,多能耐受。结论As2O3治疗小儿APL的CR率和长期生存率高,复发率低,不良反应轻,与全反式维A酸和其他化疗药物无交叉耐药,并可单独用于巩固和维持治疗,是目前治疗小儿APL较理想的药物。     

降钙素原对尿路感染儿童膀胱输尿管反流的诊断价值及其关联性

目的 探讨降钙素原（PCT）对儿童尿路感染伴膀胱输尿管反流（VUR）的诊断价值及其关联。 方法 纳入2012年1月1日至2015年12月31日湖南省儿童医院首次诊断为尿路感染且住院期间进行了PCT、CRP检测、排尿期膀胱尿道造影（VCUG）检查和尿液细菌定量培养的患儿,排除医院获得性尿路感染者和进行过尿道外科手术者。以VCUG作为金标准,以PCT和CRP为待测标准,将诊断为VUR的患儿分为无反流组和反流组（轻度反流亚组和重度反流亚组）。采集性别、月龄和VCUG信息,仅截取入院后24 h内行PCT和CRP检测的结果。比较PCT和CRP对VUR的诊断参数。 结果 进入本文分析的尿路感染患儿156例,经VCUG确诊的VUR （反流组）58例,其中轻度反流亚组38例,重度反流亚组20例;无反流组98例。无反流组与反流组患儿月龄、男女比例差异无统计学意义（Z=-1.667, P=0.096;χ2=0.291,P=0.590）。PCT(ng·mL-1)和CRP(mg·L-1)反流组高于无反流组［1.01（0.78,1.28）vs 0.40（0.10,0.60）和14.2（8.9,31.1）vs 11.0（6.6,19.5）］,差异有统计学意义（Z=-7.863, P=0.000;Z=-2.327, P=0.02）。PCT无反流组与轻度反流亚组［0.99（0.68,1.16）］和重度反流亚组［1.57（0.93,1.96）］、CRP无反流组与重度反流亚组［28.9（12.7,45.2）］、PCT与CRP轻度反流亚组及重度反流亚组,差异均有统计学意义。CRP无反流组与轻度反流亚组［12.6（8.5,19.5）］,差异无统计学意义。PCT区分有无反流的最佳截值为0.77 ng·mL-1,敏感度为77.6%,特异度90.8%,ROC曲线下面积0.877（95％CI：0.811~0.943）。在控制了性别和CRP等因素的情况下,PCT≥0.77 ng·mL-1的尿路感染患儿VUR的风险是PCT＜0.77 ng·mL-1的3.604倍。 结论 PCT对于判断尿路感染患儿是否存在VUR具有一定的临床价值,可作为预测VUR的独立指标。     

可溶性黏附分子在丙种球蛋白无反应型川崎病中的表达

目的 探讨可溶性细胞间黏附分子-1（sICAM-1）在静脉注射丙种球蛋白（IVIG）无反应型川崎病（KD）患儿中表达的特点和意义。方法 选取使用IVIG治疗的KD患儿271例,其中IVIG敏感型252例,IVIG无反应型19例;发生冠脉扩张的患儿78例;同年龄健康对照组36例。ELISA法检测血浆sICAM-1水平,同时实验室检测全血WBC、中性粒细胞、CRP、血清谷草转氨酶、血钠和血钾水平。结果 IVIG治疗前,敏感型及无反应型患儿sICAM-1水平均明显高于对照组（P<0.05）,且无反应型患儿sICAM-1水平亦高于敏感型患儿（P<0.05）;IVIG治疗后24~48 h,无反应型患儿sICAM-1水平高于敏感型患儿（P<0.05）;IVIG治疗前,IVIG敏感合并冠脉扩张患儿中sICAM-1水平明显高于IVIG敏感合并无冠脉扩张患儿（P<0.05）,IVIG无反应合并冠脉扩张患儿sICAM-1水平亦明显高于IVIG无反应合并无冠脉扩张患儿（P<0.05）;无反应型患儿sICAM-1水平与治疗前后WBC水平变化均呈正相关（分别r=0.7562、0.8435,均P<0.01）,与治疗后CRP水平变化亦呈正相关（r=0.8936,P<0.01）。结论 高水平的sICAM-1表达可望作为预测KD患儿对IVIG反应情况及发生冠脉扩张的一项危险因素。     

频繁复发性肾病息儿肾上腺皮质功能检测的对照观察

本文对62例原发性肾病综合征激素敏感型患儿,检测其血清皮质醇浓度共74例次,结果表明:肾病初发与复发患儿血皮质醇浓度低于对照组;缓解期频繁复发患儿血皮质醇浓度低于非频繁复发患儿(P<0.001)。停药期两组患儿血皮质醇浓度恢复正常。38例做ACTH兴奋试验均呈正常反应。提示缓解期肾上腺皮质功能恢复缓慢可能是肾病频繁复发的重要原因之一。     

Creatinine as a measure of lean body mass during treatment of acute lymphoblastic leukemia in childhood

Protein energy malnutrition is well-recognized in children with acute leukemia and may result in loss of lean body mass (LBM) with attendant morbidities. Much of the LBM consists of skeletal muscle, the mass of which is reflected in urinary creatinine excretion. As accurate 24 hours urine collections are challenging in children, we investigated the prospect that serum creatinine concentration provides a measure of LBM. Eleven children with acute lymphoblastic leukemia were assessed at 7 time points (6-mo intervals) from diagnosis to 1 year after the completion of therapy. LBM was measured as fat-free mass by dual energy x-ray absorptiometry (DXA scans) and correlated with serum creatinine concentration and 24 hours urine creatinine excretion. As expected, there was a strong correlation between 24 hours urinary creatinine excretion and LBM from DXA scans (r=0.79, P<0.001). Serum creatinine concentration also correlated with LBM (r=0.52, P<0.001). Serum creatinine concentration provides a surrogate measure of LBM in children with acute lymphoblastic leukemia. This will be especially useful in countries with limited resources in which more sophisticated measures, such as DXA scans, are seldom available.     

过敏性紫癜患儿抗凝纤溶系统标志物的动态变化

目的观察儿童过敏性紫癜(HSP)及过敏性紫癜性肾炎(HSPN)抗凝纤溶系统标志物的动态变化,了解其与HSP及HSPN疾病进展的关系。方法将2010年9月—2011年5月收治的HSP及HSPN患儿共241例,根据病史长短,分为HSP发作组(30例)、HSP半月组(27例)、HSP 1月组(23例)、HSP 2月组(20例),HSPN发作组(19例)、HSPN半月组(22例)、HSPN 1月组(28例)、HSPN 2月组(21例)、HSPN 3月组(22例)及HSPN 6月组(29例)。检测抗凝血酶Ⅲ活性(ATⅢ-%)、血浆D-二聚体(D-dimer)、纤维蛋白原降解产物(FDP)、血小板(PLT)、C反应蛋白(CRP)、24 h尿蛋白定量(24U-TP)及尿红细胞定量水平,并与对照组35例健康体检儿童比较。结果 HSP患儿的ATⅢ-%在2个月内渐降至正常水平,多组之间比较差异有统计学意义(P<0.001);HSPN患儿的ATⅢ-%在6个月内渐降至正常水平,多组之间比较差异有统计学意义(P<0.001);HSP及HSPN患儿的PLT在2个月内渐降至正常水平,D-dimer、FDP和CRP在半个月内渐降至正常水平,多组之间比较差异有统计学意义(P均<0.001);HSPN患儿发作期的ATⅢ-%与PLT水平高于HSP患儿(P均<0.05);HSP患儿的CRP与D-dimer呈正相关(r=0.451,P<0.001);HSPN患儿的CRP与D-dimer、FDP呈正相关(r=0.525、0.367,P均<0.001);HSPN患儿的ATⅢ-%与PLT、24U-TP之间呈正相关(r=0.407、0.497,P均<0.001)。结论 HSP及HSPN患儿发作期抗凝纤溶系统处于高活动状态,HSPN患儿更明显,随着临床症状的消失,其高活动状态逐渐恢复;ATⅢ的高活动状态可能与HSPN的进展有一定的关系。     

Environmental mercury exposure in children: South China''s experience

BACKGROUND: Environmental mercury levels significantly increased in the past decades following its increase in industrial applications. In spite of an increasing concern on the potential harmful effects of mercury on children, there is no reported data for the Chinese population. The relationship between dietary habit and environmental mercury exposure in Chinese children was studied. METHODS: The hair and blood mercury levels of Chinese children aged above 3 years in 2000 March to September, were studied. Sociodemographic data, dietary habits of the past 6 months, and other risk factors for environmental mercury exposure were collected. Those children with blood mercury levels above the toxic range (i.e. > 45 nmol/L) and their family members were further evaluated and their blood and hair mercury levels were monitored before and after Fishing-Moratorium period (June to August 2000) in South China Sea. RESULTS: Altogether, 137 Chinese children (mean age, 7.2 years) were recruited. The mean hair mercury level was 2.2 p.p.m and the mean blood mercury level was 17.6 nmol/L. There was a strong correlation (r = 0.88) between hair and blood mercury levels in our cohort. Frequency of fish consumption correlated with hair (r = 0.51) and blood (r = 0.54) mercury levels. For those children who consumed fish more than 3 times/week, hair and blood mercury levels were twice as high as those who consumed fish l-3 times/week and threefold of those who never consumed fish. Five children and 12 family members had toxic blood mercury levels. Their blood (P < 0.0001) and hair (P = 0.02) mercury levels dropped significantly after reducing fish consumption during Fishing-Moratorium period. CONCLUSION: Both blood and hair (i.e. Tissue) mercury levels of children in Hong Kong was elevated and correlated with the frequency of fish consumption.     

血清神经元特异性烯醇化酶水平与足月儿缺氧缺血性脑病颅内结构改变相关性研究

目的 探讨足月儿缺氧缺血性脑病（HIE）急性期血清神经元特异性烯醇化酶(NSE)水平与颅内结构改变的相关性。方法 以2006年6月至2009年6月广州市妇女儿童医疗中心收治的足月儿HIE为HIE组,分为轻度、中度和重度HIE亚组,以同期住院的非HIE新生儿为对照组。两组均于生后第1～7天检测血清NSE水平,采集急性期和急性期后至36月龄的头颅CT检查信息,探讨NSE对颅内结构改变的预测价值。结果 HIE组107例（轻度HIE亚组34例,中度HIE亚组41例,重度HIE亚组32例）和对照组30例进入分析。①HIE组和对照组血清NSE水平均呈单峰分泌趋势,以生后第2天最高,之后呈下降趋势。各时点血清NSE水平中度和重度HIE亚组均高于轻度HIE亚组和对照组（P均<0.05）。②急性期头颅CT轻度异常21例、中度异常20例、重度异常29例。以生后第2天血清NSE水平49.8 ng·mL-1预测HIE组急性期头颅CT严重异常的敏感度为62.5％,特异度为86.0％。③HIE组存活99例,89例具有头颅CT随访资料,CT异常40例（40.9%）,生后第2天NSE水平45.7 ng·mL-1预测急性期后36月龄内头颅CT异常的敏感度为71.4％,特异度为89.3％。结论 中重度足月儿HIE生后2～5 d血清NSE水平与急性期和急性期后头颅CT的异常改变相关。     

免疫抑制治疗对儿童重型再生障碍性贫血 细胞因子表达的影响

目的 探讨重型再生障碍性贫血(AA)患儿经免疫抑制治疗（IST）后外周血相关细胞因子表达水平的变化。方法 纳入2017年10月至2018年12月在首都医科大学附属北京儿童医院（我院）住院初诊为获得性重型AA（SAA）/极重型AA（VSAA）且应用IST治疗的患儿为SAA/VSAA组，同期在我院住院初诊为获得性非重型AA（MAA）并给予环孢素A(CsA)口服治疗的患儿为MAA组。采用流式细胞术检测两组患儿初诊时、SAA/VSAA组治疗6个月和12个月、MAA组治疗6个月外周血中IFN-γ、TNF-α、IL-2、IL-4、IL-6和IL-10的表达水平。结果 SAA/VSAA组25例，MAA组37例。①初诊时SAA/VSAA组IFN-γ和IL-6表达较MAA组增加（P<0.05）。②SAA/VSAA组经IST治疗1年后，IFN-γ和IL-6较治疗前明显降低，差异均有统计学意义(P<0.05)。③截至末次随访，SAA/VSAA组除3例失访外，余22例全部生存，无复发。结论 SAA/VSAA患儿血清细胞因子水平异常，IST可显著改善初治患儿相关造血负向调控因子的表达。     

Zinc nutriture in type I diabetes mellitus: relationship to growth measures and metabolic control

Zinc concentrations in plasma, hair, and urine from children and young adults with insulin-requiring or Type I diabetes mellitus were significantly correlated with height, weight, and age, as well as with indices of metabolic control, i.e., fasting serum glucose, percent glycosylated hemoglobin (HbA1), and 24-h urine glucose and insulin excretion. Urinary zinc excretion was greater in subjects than in controls (p less than 0.0001) and significantly correlated with urine glucose (p less than 0.004, r = 0.35) and volume (p less than 0.0007, r = 0.40). Urinary zinc and volume were not correlated in controls. Hyperzincuria in the subjects was not secondary to hyperinsulinuria, although zinc and insulin excretion were significantly correlated in controls (p less than 0.03, r = 0.63). Zinc in insulin preparations could not explain the excessive zinc excretion. Mean fasting plasma zinc was significantly higher than in controls, and positively correlated with height for age, while being inversely correlated with age, duration of diabetes, HbA1, urine volume, and glucose excretion. Both the mean and range of hair zinc concentration in the subjects were not different from controls. Male subjects with diabetes had a significantly lower hair concentration when compared with female subjects with diabetes (p less than 0.0009). Zinc homeostasis appears to be altered as a consequence of glucose intolerance in diabetes. Continued urinary zinc losses over time may result in a zinc deficiency state not demonstrable by altered zinc concentrations in plasma and hair.     

激素敏感型肾病综合征患儿血清、外周血单个核细胞白细胞介素-18表达的意义

目的探讨小儿激素敏感型肾病综合征(SSNS)与白细胞介素-18(IL-18)的关系及地塞米松(DEX)对外周血单个核细胞(PBMC)体外培养表达IL-18的抑制作用。方法单纯型SSNS23例。采用ELISA测定患儿治疗前后血清、尿液IL-18水平和PBMC体外培养上清液中IL-18表达。对照组为相应年龄健康儿童15例;另18例年龄相似的呼吸道感染病例作为感染对照组。结果治疗前后血清、尿液IL-18水平有显著性差异(t=15.072,16.149Pa<0.001)。治疗前PBMC在植物血凝素(PHA)刺激下体外培养上清液中IL-18表达明显高于治疗后和正常对照组(t=6.526,5.585Pa<0.001)。培养液中加入DEX后PBMC表达IL-18水平明显低于未加DEX组(t=4.217P<0.001)。血、尿IL-18与24h尿蛋白定量呈显著正相关(r=0.768,0.638P<0.05)。血清IL-18与PBMC体外培养上清液中IL-18水平呈正相关(r=0.574P<0.05)。结论SSNS的发病与IL-18密切相关;PBMC高表达IL-18可能是其血清IL-18增高原因之一。     

Low-level chronic mercury exposure in children and adolescents: Meta-analysis

BACKGROUND: Mercury is a well-known neurotoxin. There are three kinds of mercury exposure: elemental mercury poisoning, inorganic mercury poisoning and organomercury poisoning. Organomercury is the most toxic. Twenty-four hour urine for mercury and blood mercury are the gold standards for diagnosis of mercury poisoning, including low-level chronic mercury exposure. Other tests for mercury level are discussed. The purpose of the present paper was to review recent data on the nature, pathophysiology, pharmacokinetics, diagnostic methods, treatment and the linkage to neurodevelopmental disabilities of mercury exposure in children. METHODS: A literature search was undertaken of MEDLINE (1980-2003), and American Academy of Pediatrics, American Medical Association, American Dental Association, World Health Organization and Center for Disease Control websites. The search string 'mercury' was used in MEDLINE and articles were selected as appropriate by two independent reviewers. All relevant information was reviewed and data were extracted by two independent reviewers. RESULTS: Based on the meta-analysis of the accuracy of hair mercury, hair mercury levels correlated with mercury level in blood (sample size weighted correlation coefficient, r w = 0.61), with 24 h urine ( r w = 0.46) and with cord blood ( r w = 0.64). However, the correlation for hair mercury level with 24 h urine level and blood level was not high enough to replace them in clinical decision-making of individual patient. Epidemiological evidence has shown that low-level mercury poisoning is not a cause of autism (relative risk = 0.49, 95%CI = 0.36-0.66). The risk of neurodevelopmental disabilities from low-level exposure to methylmercury from the regular consumption of fish is still controversial even after combining results from different epidemiological studies worldwide. There is a lack of data in the literature about the effect of chelation therapy in children with neurodevelopmental disabilities. CONCLUSION: Mercury poisoning should be diagnosed only with validated methods. There is no evidence to support the association between mercury poisoning and autism.     

UROC1基因突变致尿刊酸酶缺乏症1例报告并文献复习

目的：探讨 UROC1基因突变致尿刊酸酶缺乏症的临床特征。方法：报告1例UROC1基因突变致尿刊酸酶缺乏症患儿的临床资料和基因检测结果,并进行文献复习。 结果：男,1岁1个月,因“独坐不稳,不会主动抓物”就诊。 4.5个月抬头稳、6.5个月翻身,8个月可主动找人。查体：反应迟钝;双眼内斜视,追物欠佳;上肢肌张力偏高,腱反射活跃;有皮层拇指征。叶酸>25.2（参考值3.0~17.0） ng·mL-1。头颅MRI平扫显示,双脑外间隙增宽,双侧额顶颞枕叶脑髓鞘发育落后。血串联质谱显示,组氨酸116.1（6月至1岁参考值为0~79.3）μmol·L-1,增加倍率为1.5。尿代谢分析结果正常。基因测序发现患儿UROC1基因存在2个碱基突变,c.74G>A（p.G25E）为错义突变,来自患儿母亲;c.854G>A（p.W285X）为无意义突变（终止突变）,来自患儿父亲;分析显示p.G25E和 p.W285X 均可能为致病突变。检索中国知网、万方和PubMed数据库,共检索到3篇英文病例报告,报告了4例尿刊酸酶缺乏症患儿,与本文病例合并后共5例。本文病例确诊年龄最小,余4例分别为16、9、11和19岁;男2例,女3例;均表现为发育迟缓及智力发育障碍,IQ值均＜60。1篇报告UROC1基因突变导致的尿刊酸酶缺乏症,为c.209T>C和c.1348C>T复合杂合突变。结论：本文报告的UROC1基因的c.74G>A和c.854G>A可能为首次发现的致病突变,可能会引起尿刊酸酶的结构功能异常,从而导致尿刊酸酶缺乏症。