摘要
目的通过对新生儿期发病的遗传代谢病的临床特点的归纳分析,提高儿科医生对遗传代谢病的认识,争取做到早期诊断、早期治疗。方法近3年来筛选NICU中新生儿早期原因不明的严重酸中毒、肌张力异常、吸吮和喂养困难等临床表现的遗传代谢病高危儿17例,对高危病例进行血串联质谱(MS/MS)或尿气相色谱/质谱(GC/MS)分析,同时检测血乳酸、血氨等指标,筛查遗传代谢病。结果 17例高危儿中确诊为遗传代谢病3例,分别为枫糖尿病1例,戊二酸血症1例,3-甲基巴豆酰CoA羧化酶缺乏症1例。结论熟悉新生儿期发病的遗传代谢病的临床特点,利用目前的技术方法提高早期诊断率,有利于降低围生期死亡率,避免或减轻神经系统损伤等严重后遗症的发生,促进优生优育。
Objective： In order to enhance the recognization of inherited metabolic disorders in neonatal period, then to diagnose and treat earlily, we analyzed and sumed up the clinical characteristic of these diseases. Method： By collecting 17 high risk infants with clinical situation of agnogenic severe acidosis, abnormality muscle tonus, difficult sucking and feeding and so on. Analyzed by hemat - MS/MS or uro - GC/MS, detecting the lactic acid, blood ammonia simultaneously to screen the inherited metabolic disorders. Results ： Three of the 17 high risk infants were inherited metabolic disorders, they were Maple Syrup Urine Disease, glutaricacidemia, 3 - tiglyl - CoA carboxylase deficiency. Conclusions： To be familiar with the inherited metabolic disorders in neonatal period, can increase the early diagnosis, lower perinatal mortality, avoid or alleviate severe sequelae for nervous system injuries, in order to raise healthier, better educated children.
出处
《中国优生与遗传杂志》
2012年第5期96-97,共2页
Chinese Journal of Birth Health & Heredity
关键词
遗传代谢病
婴儿
新生儿
Inherited metabolic disorders
Infant
Newborn
