儿科重症医学与遗传代谢病

遗传代谢病患儿经常以严重酸中毒、高氨血症、脑水肿、昏迷、嗜睡、抽搐、呕吐、肌无力、黄疸、呼吸困难等症状在PICU住院,小儿重症医学科医生应重视对遗传代谢病诊断和治疗的认识,提高对遗传代谢病的诊治水平.本文介绍了小儿重症医学科医生应基本掌握的遗传代谢病的概念、临床表现、诊断方法和基本治疗方法,并提出了对遗传代谢病重症危象患儿血液净化治疗的重要性.     

数字视频脑电图在儿科重症监护室的应用

儿科重症监护室(NICU、PICU)的患儿常存在各种原因导致脑损伤,数字视频脑电图检查可为病因诊断、病情变化监测、评估、预后等提供帮助,现将数字视频脑电图在 NICU 和 PICU 中常见疾病中的应用进行综述。     

Dietary management of inborn errors of metabolism

Inborn errors of metabolism are individually rare but are an important cause of mortality and morbidity in infants and children. Dietary therapy is the mainstay of treatment in phenylketonuria, maple syrup urine disease, homocystinuria, galactossemia and glycogen storage disease (Type I/III). Some disorders like urea cycle disorders and organic acidurias require dietary modification in addition to other modalities. Certain basic principles of dietary management should be clearly understood for proper management of these disorders. Commercially available diets are very expensive and modification in routine Indian diet may be tried based on content of different nutrients but the desirable fine control is not achieved.     

Approach to inborn errors of metabolism presenting in the neonate

Inborn errors of metabolism (IEM) are an important cause of acute illness in newborns. Presentation may mimic common neonatal conditions such as sepsis. Prompt detection requires a high index of suspicion and the early measurement of biochemical markers such as blood ammonia. Diagnosis is important not only for treatment but also for genetic counselling. Guidelines for diagnosis and early management of IEM presenting in the neonatal period are described.     

代谢性心肌病

心肌代谢活跃,代谢紊乱导致心肌能量产生不足,引起心肌病变。先天性代谢缺陷是儿童心肌病常见病因之一,表现为肥厚型或扩张型心肌病等类型,导致心力衰竭或心源性休克,甚至猝死。据报道,可引起心肌病的先天性代谢缺陷有40余种,包括脂肪酸氧化障碍、糖原累积病、溶酶体贮积病、线粒体病、有机酸血症、肌酸病和先天性糖基化障碍等。存在多系...     

Inborn errors of metabolism for the diagnostic radiologist

Inherited metabolic disorders are becoming more important with the increasing availability of diagnostic methods and therapies for these conditions. The radiologist has become an important link in making the diagnosis or collaborating with the specialist centre to diagnose these disorders and monitor effects of therapy. The modes of presentation, disease-specific groups, classic radiological features and investigations are explored in this article to try and give the general radiologist some crucial background knowledge. The following presentations are covered: acute intoxication, hypoglycaemia, developmental delay and storage features. Specific groups of disorders covered are the abnormalities of intermediary metabolism, disorders of fatty acid oxidation and ketogenesis, mitochondrial disorders, lysosomal storage disorders, and, briefly, other groups such as peroxisomal disorders, disorders of glycosylation, and creatine synthesis disorders. New advances and the demands for monitoring are also briefly explored.     

Inter-laboratory quality control in neonatal screening for inborn errors of metabolism

Screening of neonates for inborn errors of metabolism has been carried out on a national level since 1969 in the Federal Republic of Germany. To raise the reliability of these routine investigations, we introduced an external quality control in March 1982. Every 2 months ten filter paper samples were sent to the screening centres in West Germany. Some of these samples have a normal and others a slightly raised content of phenylalanine, leucine, methionine and galactose. The success of this external quality control is appraised on the basis of the number of false negative results. In the course of time, screening centres in France, Israel, Italy, Japan, Switzerland, Taiwan, Turkey and Yugoslavia have also practicipated in these inter-laboratory quality controls.Abbreviations QC quality control - BIA bacterial inhibition assay - HPLC high pressure liquid chromatography     

先天性遗传代谢病的早期诊断

目的提高儿科医生对新生儿期遗传代谢病的认识，做到早期诊断、早期治疗。方法自2003年9月至2004年9月，根据临床表现确定18名遗传代谢病高危患儿，用“滤纸片代”将采集的尿标本外寄进行气相色谱．质谱(GC／MS)分析，筛查遗传代谢病。结果18例高危儿中确诊为遗传代谢病5例，分别为戊二酸尿症Ⅱ型1例(46h，男)，鸟氨酸氨甲酰转移酶缺陷1例(66h，男)，枫糖尿病1例(8d，男)，甲基丙二酸血症1例(13d，男)，丙酸血症1例(21d，女)，并对其临床特点进行归纳总结。结论掌握新生儿遗传代谢病临床特点，对高危儿早期进行尿GC／MS分析，可以早期诊断遗传代谢病，有利于优生优育。     

先天性代谢病代谢危象的急诊识别与处理

先天性代谢病代谢危象并非罕见,其临床表现常为非特异性,临床医生常倾向于在除外其他常见病后才考虑.未能得到及时治疗者可在数小时至数日内迅速恶化甚至死亡,存活者可遗留严重后遗症.诊断先天性代谢病代谢危象不需广泛了解生物化学代谢途径或每种代谢性疾病.熟悉可提示诊断线索的主要临床表现和初始辅助检查特征最为重要.早期诊断和恰当的治疗常可挽救生命、预防存活者的永久性神经系统后遗症.     

Clinical approach to the diagnoses of inborn errors of metabolism

Inborn errors of metabolism (IEMs) are complex relatively uncommon medical conditions resulting in significant morbidity and mortality. Early recognition and implementation of adequate therapeutic measures are of the utmost importance in minimizing morbidity and improving clinical outcome. This article aims to address the basics of IEMs for familiarizing primary care physicians with different types of metabolic disorders, basic diagnostic strategies, newborn screening programs, and appropriate treatment strategies. Advances in diagnostic and therapeutic options are resulting in increasing longevity and improvement in the clinical outcome of many of these patients.     

Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism

The number of diagnosed inborn errors of metabolism (IEM) is growing constantly due to the improvement and widespread availability of analytical techniques. In 1982, a laboratory for the detection of IEM was set up in Porto Alegre, Brazil, and became a national reference centre for the diagnosis of these disorders. Ten thousand patients with signs and symptoms suggestive of IEM were investigated in our laboratory from 1982 to 1995 using specific protocols which included tests for the detection of glucosaminoglycans (GAGS), amino acids, sugars, oligosaccharides, sialyloligosaccharides, organic acids, as well as various metabolites. The biochemical investigation was completed in 9,901 patients and an IEM was detected in 647 cases (6.5%). Groups of IEM of higher incidence in our sample were lysosomal storage disorders (59.8%) and aminoacidopathies (21.2%). The disorders most frequently diagnosed were classical phenylketonuria, GM1 gangliosidosis, mucopolysaccharidosis type I, mucopolysaccharidosis type VI and metachromatic leukodystrophy. Conclusion This study shows that the establishment of reference centres for the investigation of rare genetic diseases is a suitable approach to the study of IEM in developing countries such as Brazil. Received: 19 November 1996 / Accepted: 3 December 1996     

重症监护室儿童镇静评估的研究进展

镇静治疗是危重症患儿安全、舒适管理中的重要一环,镇静评估工具的准确选择能够帮助护理人员有效评估患儿的镇静水平,指导临床护理。本文就现存的Ramsay镇静评分、Richmond躁动-镇静量表、舒适量表等6种较常用的重症监护室儿童镇静评估量表和相关的镇静护理理念进行综述,旨在为选择一种适合危重症患儿的镇静评估量表以及规范镇...     

Follow-up study of 16 years neonatal screening for inborn errors of metabolism in West Germany

Capillary blood samples from almost one million neonates from Baden-Württemberg were investigated for inborn errors of metabolism between 1969 and 1984 in our screening centre. Besides 7 patients with maple syrup urine disease (MSUD), 3 with homocystinuria and 18 with galactosaemia, a follow-up of the positive screening results confirmed 94 patients with phenylketonuria (PKU) and 76 with non-PKU hyperphenylalaninaemia (non-PKU HPA). The incidence of PKU is 1: 10 000, and that of HPA in the wider sense (PKU and non-PKU HPA) as obtained by newborn screening before further classification at 6 months 1: 5532.For West Germany as a whole, the number of newly discovered cases with persistent hyperphenylalaninaemia was 1480 in the same period. The subdivision into PKU and non-PKU HPA is not yet possible from this figure. It is strongly suggested that the abnormal results of newborn screening for phenylalanine be designated as hyperphenylalaninaemia (in the wider sense) and that the terms PKU or non-PKU HPA be used only after further differentiation as carried out by us at the age of 6 months.Abbreviations MSUD maple syrup urine disease - PKU phenylketonuria - non-PKU HPA non-PKU hyperphenylalaninaemia     

串联质谱技术对新生儿遗传代谢病的筛查及随访研究

目的 初步了解串联质谱筛查新生儿遗传代谢病的发生率及确诊病例的随访情况.方法 采用串联质谱方法,对129 415例新生儿进行26种氨基酸、有机酸及脂肪酸代谢性疾病筛查,对确诊病例进行流行病学特点、预后及随访情况进行分析.结果 确诊新生儿遗传代谢病23例,包括氨基酸代谢异常13例、有机酸代谢异常6例及脂肪酸代谢异常4例,发病率为1∶5626.筛查的阳性预测值为2.10％,特异性为99.72％,敏感性为100％.所有确诊病例进行随访,仅有6例出现运动、智力发育落后及代谢紊乱.结论 串联质谱方法能够早期筛查、诊断遗传代谢病,及早干预预后较好;串联质谱筛查方法具有较高的特异性及敏感性,但阳性预测值低,需要进一步提高筛查效率.     

预防接种与遗传代谢性疾病

<正>预防接种泛指用人工制备的疫苗类制剂(抗原)或免疫血清类制剂(抗体)通过适宜的途径接种到机体,使个体和群体产生对某种传染病的自动免疫或被动免疫,其目的     

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.     

Oral itraconazole in treatment of candidemia in a pediatric intensive care unit

Objective: To examine efficacy of itraconazole in the treatment of candidemia in critically ill children.Methods: We studied retrospectively cases of candidemia seen consecutively in our Pediatric Intensive Care Unit (PICU) over three and half year.Candida isolates from those patients included.Candida albicans- 19, C.tropicalis-31,C. guillermondii- 9,C.krusei- 4 andC. glabrata-1Results: Of the 64 patients, 48 (75%) had symptoms suggestive of septicemia and 16 had no symptoms suggestive of septicemia. No antifungal therapy was given to asymptomatic patients; they recovered from candidemia without development of any sequelae. Of the 48 symptomatic patients 11 died before results of fungal culture became available and antifungal therapy could be started. Thirty seven patients were treated with itraconazole (10 mg/kg/day orally or through gastric tube). Seven (18.9 %) of 37 patients died, 3 within first week of antifungal therapy. Thirty (81%) patients recovered; microbiological cure was noted on average by day 14 (range 4–30 days). The mean ±SD duration of therapy in patients who responded was 24 ±7 days (range 21–42 days). None had any major side effect.Conclusion: We conclude that oral itraconazole may be effective in treatment of candidemia in children in a PICU where non-C.albicans Candida species constituted majority (70%) of allCandida isolates.     

连续血液净化治疗先天性代谢缺陷病重症有机酸血症

目的　分析、评价连续血液净化 (continuousbloodpurification ,CBP)对先天性代谢缺陷病 (inbornerrorsofmetabolism ,IEM )重症有机酸血症的治疗效果 ,探讨其治疗机制。方法　用BaxterBM 2 5机对 9例IEM重症有机酸血症患儿行CBP治疗 ,对比治疗前后血气、生化值 ,并比较症状、体征改善情况。结果　 9例患儿入院时 pH值 (6 87± 0 2 5 )、BB(1 6± 0 0 8)mmol/L、SB(4 0± 0 5 8)mmol/L、BE(- 2 6 1± 2 80 )mmol/L、乳酸 (15 2± 3 6 4 )mmol/L ,血氨 (2 87 5 3± 132 4 3) μmol/L ,呈重度代谢性酸中毒。经 1～ 2次 ,9～ 32hCBP治疗 ,患儿症状、体征好转 ,酸碱平衡部分纠正 ,pH(7 33± 0 18)mmol/L、BB(18 0± 2 5 6 )mmol/L、SB(19 1± 2 2 5 )mmol/L、BE(- 3 4± 1 6 2 )mmol/L、乳酸 (3 1±0 5 5 )mmol/L ,血氨 (39 2 1± 2 2 85 ) μmol/L ,较治疗前显著好转。 结论　临床观察提示 ,CBP是治疗IEM有机酸血症的一种快速有效的方法