摘要
目的提高临床医师对遗传代谢病的认识,从而做到早诊断、早治疗。方法收集2015年3月至2016年12月在怀化地区通过新生儿串联质谱筛查、气相色谱—质谱(GC/MS)分析及高精准度DNA质谱仪联合二代测序技术(NGS)等检查确诊为先天性遗传代谢病的病人的临床资料,对他们的诊治过程及预后进行分析。结果 2015年3月至2016年12月共有确诊病人14例,分别为短链酰基辅酶A脱氢酶缺乏症3例,2-甲基丁酰辅酶A脱氢酶缺乏症2例,3-甲基巴豆酰羧化酶缺乏症2例,B-酮硫解酶缺乏症1例,Citrin蛋白缺乏症1例,原发性肉碱缺乏症1例,丙酸血症1例,戊二酸血症I型1例,高苯丙氨酸血症1例,全羧化酶合成酶缺乏症1例。对其诊治过程进行总结分析,追踪预后。结论串联质谱技术对于新生儿遗传代谢性疾病的筛查具有较高的灵敏性与特异性,有利于遗传代谢性疾病的早期筛查和诊断,值得推广和普及。
Objective： Improving clinicians understanding of genetic metabolic diseases to achieve early diagnosis and early treatment. Methods： From March 2015 to December 2016, gas chromatography-mass spectrometry （GC/MS） and high-resolution mass spectrometry combined With next-generation DNA sequencing technology （NGS） was implemented in newborn screening of Huaihua City. Clinical data of infants diagnosed with congenital genetic metabolic diseases were collected. Moreover, their treatment process and prognosis were analyzed. Results： During that time, a total of 14 patients were diagnosed, respectively, 3 cases with short-chain acyl-CoA dehydrogenase deficiency, 2 cases with 2-methylbutyryl-CoA dehydrogenase deficiency, 2 cases with 3-methylcrotonyl-CoA carboxylase deficiency, 1 case with beta-ketothiolase deficiency, 1 case with citrin deficiency, 1 case with primary carnitine deficiency, 1 case with propionic acidemia, 1 case with Glutaric aciduria type I, 1 case with hyperphenylalaninemia, 1 case with holocarboxylase synthetase deficiency. Their diagnosis and treatment were summarized, and the prognosis was tracked. Conclusion： Tandem mass spectrometry has high sensitivity and specificity for the screening of newborn genetic metabolic diseases. Therefore, it is conducive to the early screening and diagnosis of these diseases and is worth promoting and using widely.
出处
《中国优生与遗传杂志》
2017年第5期20-21,共2页
Chinese Journal of Birth Health & Heredity
关键词
遗传代谢病
先天性
出生缺陷
串联质谱技术
Genetic metabolic disease
Congenital
Birth defects
Tandem mass spectrometry
