论文部分内容阅读
目的了解福建泉州地区临床高危婴幼儿遗传代谢病的发生情况,为临床高危婴幼儿遗传代谢病的早期诊断和治疗提供帮助。方法对2013年9月至2014年5月在泉州市妇幼保健院·儿童医院就诊的78例疑似高危患儿,应用串联质谱技术进行遗传代谢病筛查,并对初筛可疑阳性病例进行尿气相质谱检测和基因分析。结果共检测临床高危患儿78例,确诊5例(阳性率6.4%),其中希特林蛋白缺乏症2例,异戊酸血症1例,戊二酸血症Ⅱ型1例,多种羧化酶缺乏症1例。结论福建泉州地区具有高危因素的婴幼儿人群中,遗传代谢病存在一定的发生率,高危婴幼儿进行遗传代谢病筛查意义重大。
Objective To understand the incidence of genetic metabolic diseases in high-risk infants and young infants in Quanzhou, Fujian Province, and to provide help for the early diagnosis and treatment of genetic metabolic diseases in high-risk infants in clinics. Methods Seventy-eight children with suspected high risk were enrolled in Quanzhou Maternal and Child Health Hospital Children’s Hospital from September 2013 to May 2014. The patients were screened for genetic metabolic disease by tandem mass spectrometry. The urine samples MS detection and gene analysis. Results A total of 78 high-risk children were diagnosed clinically in 5 cases (positive rate was 6.4%), including 2 cases of deuterium deficiency, 1 case of isovaleric acid, 1 case of type II glutaralgia, 1 case of carboxylase deficiency. Conclusion Among infants and young children with high risk in Quanzhou, Fujian Province, there is a certain incidence rate of genetic metabolic diseases, and screening of high-risk infants and young children for genetic and metabolic diseases is of great significance.