海南岛113种代谢遗传病的筛查

THE SCREENING OF 113 METABOLIC INHERITANCE DISEASES OF NEONATES IN HAINAN

目的 调查海南岛新生儿及儿童代谢遗传病的发病情况 ,了解其种类及发生率。方法 :采用气相——质量色谱分析法出生 5— 10天的新生儿至 14岁以下高危儿童的尿液检测其代谢产物。结果 :检测新生儿及儿童共111例 ,阳性率为 3.6 0 (4/111)。共分两组 ,高危儿为一组阳性 3例 ,阳性率为 2 3.0 8 (3/13) ,对照组 ,阳性 1例 ,阳性率为 1.0 2 (1/98)。两组对比存在显著差异。结论 :采用气相—质量色谱分析法 ,只需少量尿液即可明确诊断113种先天性代谢性疾病 ,可以早期发现、早期诊断、早期预防、早期干预 ,从而避免造成体格发育落后和神经系统发育迟滞 ,如智力障碍。

Objective:We investigate the sorts of the diseases and its happening rate of the neonates and children in HaiNan island,so that to discovery to diagnosis,to prevent and to inerpose in early.Methods:Using GC/MS to analyze the metabolic products in the urine of the neonates at 5 to 10 days after birth and the children under 14 year old.Results:Of the 111 examined neonates and children,the positive rate is 3.60%(4/111).We divided them into two groups.The positive rate of highrisk group is 23.08%(3/13),and that of the control group is 1.02%(1/98).Obvious difference exists between them(p<0.01).Conclusion:It only need a littel urine can confirm the diagnosis of 113 kinds genetic metabolic diseases by GC/MS,which can lead to discovery to diagnosis,prevent and to interpose in early so to avoid the physically delayed development and nervous system slow-moving for example slow intelligence,palsy of brain and so on.