新生儿时期起病的遗传性代谢病2例并文献复习

摘要

Objective To investigate clinical characteristics and treatment experience of common IMD of new born babies .Methods We analyzed two IMD cases of new born babies and reviewed the documents of 90 cases of the same disease reported in recent years ( in-cluding 70 MMA cases and 20 MSUD cases).Results All 92 cases had difficulty in feeding .Seventy-six cases got ill one week after birth.In 37 cases there had been still-birth or abortion with unknown reasons to their mothers , or premature death or hypophrenia to their siblings in the family history .The 92 cases all underwent tandem and urine gas phase MS detection .MRI/CT found unusual signals in 49 cases,and 67 cases died or gave up treatment .Conclusions Among IMD of new born babies ,MMA is most common.Reports of MSUD cases of new born babies are rising .Both diseases have presyndrom of difficulty in feeding without other special syndroms ,which often leads to misdiagnosis .The death rate is high .Head CT often finds unusual situations .Pediatricians should emphasize tandem and urine gas phase MS detection of IMD to ensure early diagnosis and early treatment .%目的：探讨新生儿期常见的遗传代谢性疾病临床特点及诊治经验。方法分析该科2例新生儿遗传代谢病资料，并结合近年来国内已报道的相同新生儿病例90例（其中甲基丙二酸血症70例，枫糖尿病20例）进行文献复习。结果92例均有喂养困难，76例在生后一周左右即发病，37例有母亲不明原因死胎、流产或同胞不明原因夭折、智力低下的家族史，92例均行血串联质谱或（和）尿气相色谱-质谱检测，49例MRI/CT有异常信号，67例死亡或放弃治疗。结论新生儿期遗传代谢性疾病如甲基丙二酸血症、新生儿枫糖尿病早期常表现喂养困难、反应差等，但无特异性，易被误诊，儿科医师应重视利用串联质谱和气相质谱技术进行遗传代谢病的筛查。