串联质谱分析在潍坊地区遗传代谢病诊治中的应用

目的 提高临床医师及家长对遗传代谢病的认识,通过串联质谱筛查技术做到早期诊断,积极治疗.方法 对2010年6月至2011年9月,在山东省潍坊医学院附属医院儿科病房及门诊疑有遗传性代谢病高危儿68例,男45例,女23例,年龄3天~12岁.手指采血,滴于专用采血滤纸上,送至山东省济南金域检验机构,采用干血滤纸片与含已知量的氨基酸、酰基肉碱同位素内标一起,经甲醇萃取,盐酸正丁醇衍生后,用串联质谱仪分析血片中氨基酸谱和酰基肉碱谱及其浓度.结果 在68例标本中,检出阳性标本7例(10.3%),其中甲基丙二酸血症2例,丙酸血症1例,戊二酸血症Ⅰ型1例,苯丙酮尿症1例,枫糖尿病1例,citrin蛋白缺陷症1例.结论 串联质谱对非特异性临床表现疑似遗传性代谢病的患儿检测有重要的价值.

A Pilot Study of Selective Screening for High-Risk Children with Inborn Metabolic Diseases by Using Tandem Mass Spectrometry in Weifang Area

Objective To deepen the understanding of hereditary metabolic diseases,so the clinical doctors and parents can get well informed of these diseases.The method of tandem mass spectrometry can be applied to conduct an early diagnosis and active treatment.Methods The subject consisted of 68 high-risk children with hereditary metabolic diseases.They were from either pediatric ward or outpatient service in Shandong Affiliated Hospital of Weifang Medical School,and came into the hospital from June 2010 to September 2011,45 males and 23 females,aged ranging from 3 days to 12 years.Finger blood was taken,collected on filter paper,and then sent to Jinan auric field inspection institutions.Punched and extracted into methanol solution with stable isotope labeled internal standards,then derivatized with butanoic-HCI.After preparation,the samples were analyzed by tandem mass spectrometry.Results 7 cases(10.3%) were confirmed as having developed hereditary metabolic diseases,including 2 cases of methylmalonic academia,1 of propionic academia,1 of Glutaric aciduria type I,1 of Phenylket0nuria,1 of maple syrup urine disease,and 1 of citrin deficiency.Conclusion The results indicated the importance of selective screening for high-risk patients with inborn metabolic diseases.