摘要
目的 通过对遗传代谢病高危患儿尿液成分进行生化分析 ,筛查遗传代谢病 ,为临床诊断和治疗提供实验依据。方法 收集遗传代谢病高危患儿尿液标本 ,经去尿素、加内标、除蛋白、真空干燥、三甲基硅烷基衍生等处理后 ,应用气相色谱 -质谱联用仪分析尿液中有机酸、氨基酸、糖类、多醇、嘌呤、嘧啶等成分。这一流程在国际上被称为尿素酶预处理 气相色谱 质谱法。结果 对来自中国大陆 6省、区和直辖市的 3 2 7例遗传代谢病高危患儿的尿液标本进行检测 ,共筛查出遗传代谢病 16种 2 7例 ,阳性率为 8.2 6% ,其中高苯丙氨酸血症、甘油尿症和Leigh综合征各 3例 ,丙酸血症、甲基丙二酸尿症、vonGierke病、果糖 1,6 二磷酸酶缺陷病、果糖尿症各 2例 ,多种羧化酶缺陷病、戊二酸血症Ⅰ型、枫糖尿病、高甘氨酸血症、3 氨基异丁酸尿症、半乳糖血症、瓜氨酸血症Ⅱ型及Fanconi综合征各 1例。经临床干预虽然仍有部分患儿预后不良 ,但多种羧化酶缺陷病、甲基丙二酸尿症、半乳糖血症等患儿获得较好的治疗效果。其余患儿的病情有待追踪观察。结论 应用尿素酶预处理 气相色谱 质谱法分析尿液成分 ,是筛查某些遗传代谢病的有效方法 ,检测结果可为患儿的诊断和治疗提供有效指导。
Objective The purpose of this paper is to screen inborn errors of meta bolism (IEM) by analyzing urinary components, so as to provide laboratory guide for their diagnosis and therapy.Methods Urine samples of patients suspected to have IEM were collec- ted.Urea was de compo sed with urease and n-heptadecanoic acid was added as internal standard.Protein was denatured with ethanol and precipitate was removed by centrifugation,dried b y evaporation, the residue was trimethylsilylly derivatized with BSTFA/TMCS,and then analyzed with GC-MS for quantification of organic acids, amino acids,suga rs, polyols, purines and pyrimidines, simultaneously. This procedure is denom inated as urease pretreatment-gas chromatography-mass spectrometry (UP-GC-MS) internationally.Results Urinary samples of 327 patients from 6 provinces, cities and autonomous regions were analyzed,and 16 kinds of 27 cases of IEM were screened out with a positiv e rate of 8.26%,among which there were 3 cases of hyperphenylalaninemia,3 cases of glyceroluria,3 cases of Leigh syndrome, 2 cases of propionic acidemia, 2 case s of methylmalonic aciduria, 2 cases of von Gierke′s disease, 2 cases of fructo se-1,6-diphosphatase deficiency, 2 cases of fructosuria, 1 cases of multiple car boxylase deficiency, 1 cases of glutaric acidemia typeⅠ, 1 cases of maple sy rup urine disease, 1 cases of hyperglycinemia, 1 cases of 3-aminoisobutyric acid uria,1 cases of adult-onset typeⅡcitrullinemia,1 cases of galactosemia and 1 ca ses of Fanconi′s syndrome.Several IEM patients above had died,but satisfactory therapeutic effects had been achieved in some diseases,in cluding multiple carboxylase deficiency,methylmalonic aciduria and galactosemia. Other patients′ condition remained to be followed up.Conclusion Analysis of urinary components by UP-GC-MS provides a valuable tool for screenin g of IEM and the results will help to provide effective diagnostic and therapeut ic guide for the patients. J Appl Clin Pediatr,2005,20(2):142-144
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2005年第2期142-144,i003,共4页
Journal of Applied Clinical Pediatrics
基金
国家重点基础研究发展规划项目(2001CB510306)
中国博士后科学基金项目(2002031286)
广东省科技计划项目(2004B50301008)
关键词
遗传代谢病
气相色谱
质谱法
尿素酶预处理
inborn errors of metabolism
gas chromatography
mass sp ectrometry
urease pretreatment
