CAJ | 학술논문

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。
목적조사해남도신생인급인동대사유전병적발병정황，료해기충류급발생솔。방법：채용기상——질량색보분석법출생5—10천적신생인지14세이하고위인동적뇨액검측기대사산물。결과：검측신생인급인동공111례，양성솔위3.60%(4/111)。공분량조，고위인위일조양성3례，양성솔위23.08%(3/13)，대조조，양성1례，양성솔위1.02%(1/98)。량조대비존재현저차이。결론：채용기상—질량색보분석법，지수소량뇨액즉가명학진단113충선천성대사성질병，가이조기발현、조기진단、조기예방、조기간예，종이피면조성체격발육락후화신경계통발육지체，여지력장애、뇌탄등。
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.