婴儿痉挛症患儿先天性代谢异常筛查

目的 探讨婴儿痉挛症(IS)患儿中不同先天性代谢异常情况,以利早期进行病因及对症治疗.方法 采用气相色谱-质谱法对30例IS患儿尿标本进行氨基酸、有机酸、脂肪酸、糖、核苷酸等代谢异常筛查,并进行尿常规、肝功能、血生化、脑部影像学及脑干听、视觉诱发电位等检查.结果 30例IS患儿中,23例(76.67％)尿筛查异常,其中甲基丙二酸尿症及酮性双羧酸尿症各4例(13.33％),非酮性双羧酸尿症3例(10.00％),苯丙酮尿症、戊二酸尿症、乳酸尿症和丙酸尿症各2例(6.67％),焦谷氨酸尿症、4-羟基苯丙酮酸尿症、色氨酸尿症及乳糖和半乳糖代谢异常各1例(3.33％).23例尿筛查异常病例均有不同程度的智力运动发育落后或倒退(100％).其中头颅CT或MRI异常12例(52.17％),脑干诱发电位异常20例(86.96％),肝功能异常3例(13.04％),血生化异常4例( 17.39％),尿常规酮体阳性(+～++)3例(13.04％).结论 先天性代谢异常是IS重要致病原因,对IS患儿应尽早进行先天性代谢异常筛查和遗传咨询,以助早期治疗及改善预后.     

儿童真菌感染的高危因素

<正>随着临床医学的发展和检验手段的日臻完善,人们对真菌感染的认识越来越深入。侵袭性真菌感染(invasive fungal infection,IFI)是指侵袭深部组织和内脏以及全身的真菌感染,包括深部组织感染和真菌血症,致病真菌主要     

儿童铅中毒高危因素分析

目的探讨儿童铅中毒发生的高危因素,以便能更好地进行预防。方法选择1055例门诊患儿。年龄5个月~16岁,平均(7.2±3.5)岁。应用3010-B血铅分析仪对患儿进行血铅测定;同时对每位患儿进行铅中毒影响因素问卷调查。结果儿童血铅水平(110.1±41.9)μg/L,铅中毒(血铅≥100μg/L)检出率为43.51%,各年龄组血铅水平无显著差异。多因素逐步回归分析显示,对儿童血铅水平发生显著影响因素依次是不勤洗手、经常吃膨化食品、偏(挑)食、不常补钙和锌及经常居室装修。结论不良的饮食和生活习惯是儿童铅中毒发生的高危因素。     

神经母细胞瘤高危儿童筛查及其方案研究进展

正神经母细胞瘤(neuroblastoma,NB)是一种胚胎性自主神经系统肿瘤,是5岁以下儿童最常见的颅外实体恶性肿瘤~([1])。NB在儿童所有肿瘤相关死亡原因中占15%,中位诊断年龄约为16个月,约95%患儿在7岁之前可以确诊~([2])。NB患儿最常见的病灶部位为肾上腺区域(48%)、肾上腺之外的腹膜后区(25%)、胸腔(16%)、其他少见的部位有颈部(3%)和骨盆(3%)等。NB临床特点为原发部位隐匿,早期无特异性症状,早期诊断困难,易发生早期     

先天性心脏病发生的高危因素和预防

先天性心脏病(CHD)是常见的先天畸形,每年我国新增CHD患儿15万～20万例,给家庭和社会带来巨大压力。目前CHD的高危因素分为遗传因素(如染色体畸变、单基因遗传、多基因遗传等)和母亲及环境相关因素(如宫内感染、妊娠早期患病服药、抽烟饮酒、环境问题等),认识CHD的高危因素以及有针对性地进行预防,对于减少CHD的发生、降低儿童病死率和促进我国优生优育有重要意义。     

先天性代谢异常症的治疗展望

先天性代谢异常症的治疗原则有以下几方面:(1)为预防代谢异常所产生的基质蓄积的饮食疗法;(2)因代谢障碍不能产生或产生异常蛋白时,补充必须因子或蛋白等的补充疗法;(3)用药物等去除蓄积物质的去除方等。现介绍如下。酶补充疗法一、输注含酶的血浆、血细胞方法Di Ferrante等报告,粘多糖病Ⅰ、Ⅱ型输注大量血浆则蓄积的葡萄胺聚糖分解增强变成小分子排泄尿中。粘脂病Ⅲ型3次大量换血浆,血清α-甘露糖苷酶和β-氨基己糖苷酶活性约半数正常,但未见临床效果。Mapes等为弥漫性全身血管胶质瘤(Fabry)换血浆,血中角质胺三己糖苷减少,但细胞内的贮积脂质未减少。遗传性多发性神经病综合征换血浆并用饮     

早产儿视网膜病的筛查及其高危因素分析

目的 分析早产儿视网膜病(ROP)的危险因素,为合理防治ROP提供理论依据.方法回顾分析2006年7月至2008年5月,我院NICU住院的胎龄≤36周、出生体重≤2500 g行ROP筛查的1675例早产儿临床资料.记录早产儿的性别、胎数、孕周、出生体重、用氧情况、患全身疾病情况及孕母情况.同时用单因素χ~2检验和多因素Logistic回归分析筛选和判定早产儿ROP发生的危险因素.结果 1675例早产儿中,发生ROP 195例,ROP患病率为11.6%.195例ROP患儿中,达到阈值前病变Ⅰ型或阈值病变者35例,占筛查早产儿的2.1%.ROP发生的相关因素分析发现,出生体重越低、胎龄越小、氧疗时间越长,ROP患病率越高.Logistic回归分析结果 表明,低出生体重、小胎龄、窒息、呼吸暂停、氧疗是ROP发生的高危因素(OR值分别为0.957、1.052、1.186、5.314、1.881).结论 低出生体重、小胎龄、窒息、呼吸暂停、氧疗是ROP发生的高危因素,建议对具有高危因素的所有早产儿均进行ROP筛查.     

Cardiac manifestations in children with inborn errors of metabolism

Need and purpose

Cardiac involvement is a part of many inborn errors of metabolism, but has not been systematically studied. This review focuses on studies describing cardiac manifestations of inborn errors of metabolism in childhood.

Methods

Two independent reviewers searched the topic using PubMed database. Studies published within 20 years were considered, without applying any restrictions related to study design.Despite the small number of existing systematic studies on the topic, several case series/reports were identified.

Conclusions

Cardiomyopathy is the most frequent heart disorder in most metabolic defects. Heart rhythm disorders are mainly encountered in mitochondrial disorders and acidemias, whereas valvular dysfunction is a prominent finding in storage disorders. Cardiac involvement in mitochondrial disorders, congenital disorders of glycosylation and acidemias usually constitute an early symptom. On the contrary, in storage disorders, heart problems are revealed in later stages during routine multisystemic evaluation, with the exception of Pompe disease. As a variety of cardiac manifestations can be found in inborn errors of metabolism, these children should be systematically screened for heart problems during their follow-up.

     

Screening for inborn errors of metabolism in high-risk children from Rio de Janeiro, Brazil

From 1988 to 1995, our laboratory at the Institute of Chemistry of the Federal University of Rio de Janeiro, in Rio de Janeiro, screened 2650 samples from 2000 high-risk patients (mostly children) for Inborn Errors of Metabolism (IEM). Chemical tests, various chromatographic techniques and enzyme assays were performed on urine, plasma and in some cases, cerebrospinal fluid (CSF). A total of 145 cases of IEM (7.2%) was identified. These were related to: the metabolism of amino acids (41) and carbohydrates (17), organic acids (7), lysosomal enzymes (61), membrane transport system (16), metals (2), intestinal disaccharidases (1) and porphyrin metabolism (3). Furthermore, a relevant number of patients with abnormal findings is still under investigation. Biochemical results and clinical symptoms are presented and the importance of reference laboratories for the detection of IEM is stressed.     

遗传性代谢病146例临床研究

目的 探讨遗传性代谢病患儿的疾病谱、年龄特点及临床症状.方法 对2003年1月-2007年12月在首都儿科研究所附属儿童医院住院的146例遗传性代谢病患儿的临床资料进行回顾性分析.依据患儿典型症状结合特殊生化检测、尿GC/MS、酶学、基因学检测、肌肉活检、影像学及实验性治疗等作出实验室诊断或临床诊断.结果 检出遗传性代谢病共9大类17个病种,有机酸血症检出率占首位(36.3%),其次为线粒体病(16.4%).1岁内出现症状者91例(62.3%),确诊53例(36.3%);～3岁出现症状者21例(14.4%),确诊40例(27.4%);～6岁出现症状者16例(11.0%),确诊15例(10.3%);>6岁出现症状者18例(12.3%),确诊38例(26.0%).146例主要表现为智力运动发育落后或倒退(85.9%)、肌张力异常(51.4%)、惊厥(41.8%)、肝大(30.8%)、血液系统异常(24.7%)、共济失调(12.3%).结论 儿童期发病的遗传性代谢病病种多,其中有机酸血症检出率最高;遗传性代谢病息儿症状出现年龄早、确诊年龄滞后,且随年龄增长发病人数减少;对以智力运动发育落后/倒退、惊厥、肌张力异常就诊的患儿应注意除外遗传性代谢病.     

Laboratory diagnosis of inborn errors of metabolism in children

A compendium of tests available to diagnose children with inborn errors of metabolism is presented. It is intended to provide the pediatric pathologist with a rational way of using laboratory tests to investigate a patient who is suspected of having an inborn error of metabolism. It is intended to bridge the gap between the ward and the laboratory by providing a framework for investigations of such children.     

Osteoporosis in children with neuromuscular diseases and inborn errors of metabolism

The effects on bone of cerebral palsy (CP), Duchenne's muscular dystrophy and different metabolic diseases are reviewed from the literature. Children affected with neuromuscular diseases and inborn errors of metabolism may develope osteoporosis. Mechanical stimulation is paramount for bone strengthening, and immobilization is a well-known cause of osteoporosis. CP is the most common cause of disability in pediatrics. The main cause of low bone density in children and adolescents with CP and muscular dystrophy is lack of activity, but nutritional issues and pharmacological treatments can contribute to the clinical picture. Programs to exert mechanical stimulation of their bones are warranted, as much as nutritional programs. Treatment with bisphosphonates shows promising results in this population. The term 'inborn errors of metabolism' comprise a large list of defects in the metabolism of amino acid transport and metabolism of peptides, carbohydrates, vitamins, minerals, and fatty acids. Other disorders included are errors in mitochondrial energy metabolism, problems with biosynthesis and breakdown of complex molecules, and neurotransmitter defects. Low bone density and fractures in these patients may be consequence of immobilization and muscle weakness, but also of treatments (e.g. steroids, dietary restrictions), and the primary disease. Adequate control of the primary disease is paramount to prevent bone problems.     

Newborn screening for inborn errors of metabolism

The aim of screening is to identify newborns who appear healthy but could be at risk of developing rare conditions that can lead to serious complications and if left untreated even death (table 1). The need for prompt and effective intervention in screen positive patients is particularly important in cases of inherited metabolic diseases (IMD). These conditions often have complex or urgent needs and evidence suggests that outcome may be strongly influenced by referral and treatment pathways. Referrals of all IMD screen positive patients are undertaken in co-ordination with a paediatric IMD centres across the UK. From early 2015 the NHS Newborn Blood Spot Screening Programme in England is offering screening for a total of nine disorders, six of which are inborn errors of metabolism. The UK screening programme is regulated by the Department of Health through the National Screening Committee (UK NSC) and clear recommendations exist regarding management and follow-up of positive screen results.The newborn screening process has evolved as understanding of the conditions, availability of diagnostic tests and treatment option has also changed. Decisions as to which conditions should be included in newborn screening programmes have become controversial with varying practices across the globe.