J.Proteome Res.：利用尿液诊断自闭症患儿
英、澳两国科学家近日研究发现，自闭症患儿尿液的化学成分不同于正常儿童。研究人员认为，该发现有助于开发出新型尿液检测法，使自闭症的及早诊断和治疗成为可能。相关研究发表在最新一期《蛋白质组学研究》杂志上。
自闭症又称孤独症，被归类为一种由神经系统失调导致的发育障碍，症状主要表现为社会和语言交往障碍以及兴趣和行为的异常。由于该种疾病的生理症状并不明显，因此目前其诊断过程十分漫长，涉及一系列的试验，需要测试孩子的社会交往和沟通能力以及想象力等诸多方面。
从医学角度来说，对于自闭症患儿的治疗越早越好，如能在一岁半之前即进行早期干预，则可大大提高治疗效果。但这种早期干预需要建立在明确诊断的基础之上，依靠目前的诊断方法，要在孩子如此小的时候判定其是否患有自闭症十分困难。
伦敦帝国理工大学和南澳大利亚大学研究人员组成的研究小组，利用核磁共振氢谱法对101名3岁至9岁的儿童的尿液样本进行了分析。这些儿童被分为3个对照组，第一组为确诊患有自闭症的儿童；第二组为自身没有自闭症，但其兄弟姐妹中有人患有自闭症的儿童；第三组则是自身和整个家族都没有自闭症患者的儿童。分析发现，每组儿童尿液的化学成分是不一样的，第三组儿童的尿液化学指纹与第二组儿童不同，而第一组自闭症患儿的化学指纹更不同于另外两组。
研究人员认为，自闭症患者常伴有肠胃功能紊乱症状，其体内肠道菌落与正常儿童明显不同，代谢过程亦有差异，正是这些状况导致其化学指纹的差异。至于肠胃失调对于自闭症的发展所具有的生物学意义，目前则尚未明确。
该新发现很有可能成为开发非侵入性自闭症诊断方法的基础。论文作者之一、帝国理工大学的杰里米·尼科尔森教授指出，这是向开发新型自闭症尿液检测诊断法迈出的第一步，医生在患者幼年时期即能就其是否患有自闭症做出快速判断，将大大提高治疗效果。（生物谷Bioon.com）
生物谷推荐原文出处：
J. Proteome Res. DOI: 10.1021/pr901188e
Urinary Metabolic Phenotyping Differentiates Children with Autism from Their Unaffected Siblings and Age-Matched Controls
Ivan K. S. Yap?, Manya Angley??, Kirill A. Veselkov?, Elaine Holmes?, John C. Lindon? and Jeremy K. Nicholson*?
Biomolecular Medicine, Division of Surgery and Cancer, Faculty of Medicine, Imperial College London, Sir Alexander Fleming Building, South Kensington Campus, London SW7 2AZ, United Kingdom, and Sansom Institute, Division of Health Sciences, University of South Australia
Autism is an early onset developmental disorder with a severe life-long impact on behavior and social functioning that has associated metabolic abnormalities. The urinary metabolic phenotypes of individuals (age range=3?9 years old) diagnosed with autism using the DSM-IV-TR criteria (n = 39; male = 35; female = 4), together with their nonautistic siblings (n = 28; male = 14; female = 14) and age-matched healthy volunteers (n = 34, male = 17; female = 17) have been characterized for the first time using 1H NMR spectroscopy and pattern recognition methods. Novel findings associated with alterations in nicotinic acid metabolism within autistic individuals showing increased urinary excretion of N-methyl-2-pyridone-5-carboxamide, N-methyl nicotinic acid, and N-methyl nicotinamide indicate a perturbation in the tryptophan?nicotinic acid metabolic pathway. Multivariate statistical analysis indicated urinary patterns of the free amino acids, glutamate and taurine were significantly different between groups with the autistic children showing higher levels of urinary taurine and a lower level of urinary glutamate, indicating perturbation in sulfur and amino acid metabolism in these children. Additionally, metabolic phenotype (metabotype) differences were observed between autistic and control children, which were associated with perturbations in the relative patterns of urinary mammalian-microbial cometabolites including dimethylamine, hippurate, and phenyacetylglutamine. These biochemical changes are consistent with some of the known abnormalities of gut microbiota found in autistic individuals and the associated gastrointestinal dysfunction and may be of value in monitoring the success of therapeutic interventions.
