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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、脑瘫等
Objective To investigate the incidence of metabolic diseases in newborns and children in Hainan Island and to understand their types and incidence. METHODS : The urine of newborns aged between 5 to 10 days and children under 14 years of age was tested for metabolites using gas-mass chromatographic analysis. RESULTS: A total of 111 neonates and children were detected. The positive rate was 3.6 0 (4/111). In two groups, there were 3 cases of high-risk infants with a positive rate of 2 3.0 8 (3/13), and 1 control group, with a positive rate of 1.0 2 (1/98). There are significant differences between the two groups. Conclusion: Using gas-mass chromatography, only a small amount of urine can be used to confirm the diagnosis of 113 kinds of congenital metabolic diseases. Early detection, early diagnosis, early prevention, and early intervention can be used to avoid physical development and development of the nervous system. Hysteresis, such as mental retardation, cerebral palsy, etc.