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目的提高临床医生对重症监护病房新生儿期发生的遗传代谢病的认识,提高早期诊断率。方法对2005年5月~2006年2月NICU中新生儿早期原因不明的严重酸中毒、高血钾、猝死、窒息等进行尿气相色谱-质谱仪检测;同时部分检测血乳酸、丙酮酸、血氨等。结果7例早期新生儿分别于出生时15小时、2天、3天、4天、6天发病,诊断为先天性丙酮酸代谢障碍1例、同型半胱氨酸血症1例、有机酸血症2例、戊二酸尿症Ⅱ型1例、酪氨酸血症1例、先天性肾上腺皮质增生症1例。结论NICU应警惕早期新生儿遗传代谢病,可利用目前的技术力量提高诊断率。
Objective To improve clinicians’ awareness of genetic metabolic diseases in neonatal intensive care unit and to improve the early diagnosis rate. Methods Serum acidosis, hyperkalemia, sudden death and asphyxia were detected by urinary gas chromatography - mass spectrometry in the NICU from May 2005 to February 2006. The blood lactate, pyruvate and blood Ammonia and so on. Results Seven newborn infants were diagnosed as congenital pyruvate metabolism disorder in 1 case, homocysteinemia in 1 case, organic acid blood in 15 days, 2 days, 3 days, 4 days and 6 days respectively. 2 cases of disease, 1 case of glutaric aciduria type Ⅱ, 1 case of tyrosinemia, 1 case of congenital adrenal hyperplasia. Conclusion NICU should be alert to early neonatal genetic metabolic disease, the current strength of the technology can be used to improve the diagnostic rate.