气相色谱/质谱对儿童先天遗传代谢病的筛查  

The Screening of the Inherited Metabolic Diseases For the Children in Urine Using GC/MS

作　　者：王立文[1] 许克铭[1] 倪容华[1] 蔡虹[1] 张霆[1] 张春花[2] 松本勇 

机构地区：[1]首都儿科研究所,北京100020 [2]日本金泽大学生命研究所

出　　处：《医学研究通讯》2001年第1期10-13,共4页Bulletin of Medical Research

摘　　要：目的对369名婴幼儿智力—运动发育迟缓者通过尿液进行遗传代谢病的筛查并对部分尿液异常者给予相应的治疗。方法收集患儿新鲜尿液,浸湿特殊尿液筛查滤纸,采用气相色谱—质谱(GC/MS)。结果 369例中尿化学分析异常者49例(13.3％)。其中半乳糖血症8例,苯丙酮尿症6例、甲基丙二酸尿症(MMA)5例,范可尼综合征3例,戊二酸、赖氨酸尿症、高丝氨酸尿症各2例,遗传性果糖不耐症、焦谷氨酸尿症、长链脂肪酸尿症及神经母细胞瘤各1例,其它17例。对筛查出的4例半乳糖血症,2例甲基丙二酸尿证,1例遗传性果糖不耐症进行特殊饮食及药物治疗,均取得明显的治疗效果。结论 1.对不明原因的智力—运动发育迟缓婴幼儿应进行遗传代谢病的筛查,尤其是应当在新生儿期进行。2.GC/MS检测技术方法准确,敏感性较高,特异性强,是筛查遗传代谢病的有效手段。Objective To conduct urine screening in 369 infants with mental - motor retardation of unknown cause or suspected inborn error of metabolism (IEM) and to give corresponding therapy for the patients with urine abnormality. Methods Chemical analysis of urine was conducted by using Gas choromatography- mass spectrometry (GC/MS) .Results 49 cases with urine abnormality were found (13.3%) .Among them 8 cases with galactosemia, 6 case with phenylketonuria (PKU), 5 cases with methylmalonic aciduria, 2 each of case with glutaric aciduria、 lysineuria and ho-moserine, one each of case with fructose - 1, 6 - diphosphatase deficiency (FDPD)、 pyroglutaminuria、 long - chain fatty acid and neuroblastoma, 3 case with Fanconi syndrom and 17 cases with the other. A good effect was received in infants who took corresponding therapy. Conclusions 1. Urine screening should be accepted in children with mental - motor retardaion of unknown cause.2.The GC/MS is an accurate, sensible and specific method that becomes a valuable means for screening inherited metabolic disease.3.The screening IFM must be conducted as early as possible.

关 键 词：遗传代谢病 气相色谱/质谱 儿童 筛查 尿 半乳糖血症 苯丙酮尿症 

分 类 号：R725.804[医药卫生—儿科]