青岛地区90例高危新生儿遗传代谢病的研究

Study of inherited metabolism diseases in 90 newborn infants with high risk

目的研究遗传代谢病(IMD)高危新生儿的临床表现及实验室检查。方法对90例高危IMD新生儿进行临床分析及尿有机酸、常规实验室检查。结果在90例研究对象中,10例尿有机酸分析结果阳性,诊断为IMD,检出率达11.1%,涉及6种IMD,临床表现及实验室检查各异,最终8例死亡,死亡率高达80.0%。结论 IMD发病早,临床表现各异,进展快,死亡率高。因此,对IMD高危新生儿应及早行尿有机酸分析,提高IMD的早期诊断率,及早治疗,改善患儿预后。

Objective： To investigate the clinical situation and laboratory examination about newborn infants with high risk of inherited metabolism diseases（IMD）.Methods： We did a urine organic acid analysis about 90 newborn infants with high risk of IMD.At the sametime,routine laboratory examination were determined.Results： There were 10 cases diagnosed IMD by analysis results among the 90 cases.The detection rate reached 11.1%.We detected out 6 kinds IMD in this study and the clinical situation and laboratory examination were different.Finally,8 cases were died and the mortality rates were up to 80%.Conclusion： IMD are early onset,with heterogeneous clinical situation,rapid progression and high mortality.We should do the urine organic acid analysis as early as possible about newborn infants with high risk of IMD to improve the early diagnosis rate of IMD and give appropriate therapy to improve the prognosis of neonates.