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目的提高儿科医生对新生儿期遗传代谢病的认识,做到早期诊断、早期治疗。方法自2003年9月至2004年9月,根据临床表现确定18名遗传代谢病高危患儿,用“滤纸片代”将采集的尿标本外寄进行气相色谱-质谱(GC/MS)分析,筛查遗传代谢病。结果18例高危儿中确诊为遗传代谢病5例,分别为戊二酸尿症Ⅱ型1例(46h,男),鸟氨酸氨甲酰转移酶缺陷1例(66h,男),枫糖尿病1例(8d,男),甲基丙二酸血症1例(13d,男),丙酸血症1例(21d,女),并对其临床特点进行归纳总结。结论掌握新生儿遗传代谢病临床特点,对高危儿早期进行尿GC/MS分析,可以早期诊断遗传代谢病,有利于优生优育。
Objective To improve pediatricians understanding of neonatal genetic metabolic diseases, so that early diagnosis and early treatment. Methods From September 2003 to September 2004, 18 high risk children with inherited metabolic diseases were identified according to the clinical manifestations. The collected urine samples were sent out by gas chromatography - mass spectrometry (GC / MS) Screening for genetic metabolic diseases. Results Among the 18 high risk infants, 5 cases were diagnosed as inherited metabolic diseases, including 1 case (46 h, male) of glutaraldehyde type Ⅱ, 1 case of ornithine carbamoyltransferase deficiency (66 h, male), maple diabetic One case (8d, male), one case of methylmalonic acidemia (13d, male) and one case of propionic acidemia (21d, female). The clinical features were summarized. Conclusion To master the clinical features of neonatal genetic metabolic disease, early urinary GC / MS analysis of high-risk infants can be used to diagnose the genetic metabolic diseases in the early stage, which is good for prenatal and postnatal care.