海南岛113种代谢遗传病的筛查

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3．60％(4／111)。共分两组，高危儿为一组阳性3例，阳性率为23．08％(3／13)，对照组，阳性1例，阳性率为1．02％(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、脑瘫等。

THE SCREENING OF 113 METABOLIC INHERITANCE DISEASES OF NEONATES IN HAINAN

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.