论文部分内容阅读
【目的】总结2010年来西安地区高危婴幼儿中先天性遗传代谢性疾病的发病情况和治疗经验,以期提高临床医疗工作者对先天性遗传代谢性疾病的重视程度、认识和处理能力。【方法】对2010年1-12月在西安地区共33家医院就诊的高危婴幼儿104例,应用高效液相串联质谱技术的方法进行35种遗传代谢性疾病的筛检。【结果】104例高危儿,7例确诊为先天性遗传代谢病,阳性率为6.7%。病种依次为:甲基丙二酸血症3例,一过性酪氨酸血症1例,同型胱氨酸尿症1例,枫糖尿病1例,中链酰基辅酶A脱氢酶缺乏症1例。【结论】西安地区先天性遗传代谢性疾病在有高危因素的婴幼儿人群中发生率极高,按发生率高低排序依次为有机酸代谢病、氨基酸酸代谢病及脂质代谢病。早期的筛查不仅对患儿及家庭早期干预有利,也有利于医院确诊病因,减少医疗纠纷的发生,值得进一步推广开展。
【Objective】 To summarize the incidence and treatment experience of congenital genetic metabolic diseases in high-risk infants and young children in Xi’an in 2010, in order to improve the clinicians’ ability to recognize and treat congenital genetic metabolic diseases. 【Methods】 A total of 104 high-risk infants and young children treated in 33 hospitals in Xi’an from January to December 2010 were screened for 35 genetic metabolic diseases using high performance liquid chromatography-tandem mass spectrometry. 【Results】 Of the 104 high-risk infants, 7 were diagnosed as congenital hereditary metabolic disease with a positive rate of 6.7%. The disease types were as follows: 3 cases of methylmalonic acidosis, 1 case of transient tyrosinemia, 1 case of homocystinuria, 1 case of maple diabetes mellitus, 1 case of acyl-CoA dehydrogenase deficiency 1 case. 【Conclusion】 The prevalence of congenital metabolic diseases in Xi’an is extremely high among infants and young children with high risk factors. According to the incidence, the order of organic acid metabolism, amino acid metabolism and lipid metabolism is high. Early screening is not only beneficial for early intervention of children and families, but also conducive to the hospital diagnosis of etiology, reduce the incidence of medical disputes, it is worth further promotion.