气相色谱-质谱法对高危婴幼儿遗传性代谢疾病筛查的研究  

Screening for inborn error of metabolism by using gas chromatography mass spectrometry in high-risk infants

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

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

出　　处：《中华儿科杂志》2001年第9期515-517,共3页Chinese Journal of Pediatrics

基　　金：北京市归国留学人员科研基金资助

摘　　要：目的　研究气相色谱 质谱法对高危婴幼儿遗传性代谢疾病筛查的意义和价值 ,并对阳性患儿的临床特点进行分析。方法　对 70 5名原因不明的智力 运动发育迟缓、倒退及疑有遗传代谢病的婴幼儿 ,采用气相色谱 质谱 (GC MS)方法进行尿液化学分析。结果　 70 5例中尿化学分析异常者 65例 ( 9.2 %) ,均为遗传性代谢疾病患儿 ,其中半乳糖血症 11例 ,苯丙酮尿症、甲基丙二酸尿症各10例 ,范可尼综合征 3例 ,戍二酸、赖氨酸尿症、疑似同型丝氨酸尿症各 2例 ,果糖 1.6二磷酸酶缺乏症、焦谷氨酸尿症、长链脂肪酸尿症及神经母细胞瘤、鸟氨酸尿症、多羧酸酶缺乏症各 1例 ,单纯性糖尿 2例 ,糖尿病 2例 ,乳酸及酮尿症 15例。对筛查出的数种疾病患儿进行合理治疗均取得明显效果。结论　 ( 1)对不明原因的智力 运动发育迟缓及倒退的婴幼儿应进行遗传性代谢疾病的筛查。 ( 2 )GC MS检测技术方法准确 ,敏感性高 ,特异性强 ,是筛查遗传性代谢疾病的有效手段。 ( 3 )婴幼儿遗传性代谢疾病的筛查应尽早进行 ,扩大新生儿遗传性代谢疾病筛查的覆盖面 ,增加筛查病种是非常重要的。Objective To conduct screening of inborn error of metabolism (IEM) by analyzing urinary organic compounds in 705 infants with mental-motor retardation of unknown cause or suspected IEM and to give them suitable therapy. Method All of the 705 patients′ urine samples were collected by filter paper set and sent to Matsumoto Institute of Life Science (MILS) in Japan where the urinary organic compound was analyzed using gas chromatography mass spectrometry (GC-MS), and then the chemical diagnosis for IEM was done. Results Among analyzed 705 patients 65 (9.2%) cases were found with abnormal urinary profiles. Eleven cases were found with galactosemia, 10 with phenylketonuria (PKU) and 10 with methylmalonic acidemia(MMA), 2 with glutaric aciduria, 2 with lysineuria and 2 with homoserinuria, 1 with fructose-1,6-diphosphatase deficiency (FDPD), 1 with pyroglutaminuria, 1 with neuroblastoma, 1 with long-chain fatty acetyl CoA dehydrogenase deficiency, 1 with multiple carboxylase deficiency, 1 with ornithinetranscarbamylase deficiency, 2 with simple glycosuria and 2 with diabetes, 3 with Fanconi syndrome and 15 with 3-hydroxybutyrate and ketonuria . Favorable effects were observed in most of the above mentioned cases after suitable therapy. Conclusion Screening for IEM is indicated in infants with mental-motor retardation of unknown cause. The GC-MS analysis is an accurate, sensitive and specific method for the screening of IEM and it should be conducted as early as possible. It is very important to further facilitate the screening of IEM.

关 键 词：代谢缺陷 先天性 尿分析 婴儿 质谱法 气相 

分 类 号：R725.9[医药卫生—儿科]