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目的通过对癫痫患儿遗传代谢病质谱技术筛查,提高遗传代谢病所致儿童癫痫的认识,为临床诊治提供理论依据。方法选取癫痫患儿246例纳入本研究,应用气象色谱-质谱(GC-MS)和串联质谱(MS/MS)技术对入选的癫痫患儿血和尿氨基酸、有机酸、脂肪酸进行筛查,同时行血、尿常规、肝肾功能、心肌酶、血糖、血气分析及头颅MRI、EEG等检查,部分病例行血氨、乳酸、丙酮酸、血同型半胱氨酸等检测。结果筛查的246例癫痫患儿中,根据血尿筛查的典型改变结合临床表现及其它检查最后确诊遗传代谢病25例,其中甲基丙二酸血症9例(伴同型半胱氨酸血症2例),酮性双羧酸尿症3例,戊二酸血症、丙酸血症、瓜氨酸血症Ⅱ型、肉碱缺乏症及多羧酶缺乏症各2例,尿素循环障碍、4羟基丁酸尿症及苯丙酮尿症各1例。结论遗传代谢病是癫痫儿童病因之一,尤其伴有智力运动障碍、急慢性脑病及难治性的癫痫的婴幼儿尽早行先天性遗传代谢筛查,以助早期诊断,合理治疗。
Objective To understand the genetic screening of genetic metabolic disease in children with epilepsy and to improve the understanding of epilepsy in children with genetic metabolic diseases and to provide a theoretical basis for clinical diagnosis and treatment. Methods A total of 246 children with epilepsy were enrolled in this study. The blood and urine amino acids, organic acids and fatty acids were screened by gas chromatography-mass spectrometry (GC-MS) and tandem mass spectrometry (MS / MS) Blood, urine, liver and kidney function, myocardial enzymes, blood glucose, blood gas analysis and head MRI, EEG and other tests, some cases of blood ammonia, lactate, pyruvate, blood homocysteine and other tests. Results Among the 246 cases of epilepsy patients screened, 25 cases were diagnosed as inherited metabolic diseases according to the typical changes of screening for hematuria and other clinical manifestations. Among them, 9 cases of methylmalonic acidemia (with homocysteine 2 cases of disease), 3 cases of ketoacidosis, 2 cases of glutaric acidosis, propionic acidosis, citrullinated disease Ⅱ, carnitine deficiency and polycarboxylase deficiency, 2 cases of urea cycle Obstacles, 4-hydroxybutyrateuria and phenylketonuria in 1 case. Conclusions Genetic metabolic diseases are one of the causes of epilepsy. Especially for those with mental retardation, acute and chronic encephalopathy and intractable epilepsy, congenital genetic metabolic screening should be conducted early to help early diagnosis and reasonable treatment.