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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 study the clinical manifestations and laboratory tests of high-risk neonates with inherited metabolic diseases (IMD). Methods 90 cases of high risk IMD newborns were analyzed clinically and urine organic acids, routine laboratory tests. Results Among the 90 subjects, 10 cases had positive urine organic acid analysis, diagnosed as IMD, the detection rate was 11.1%, involving 6 kinds of IMD, clinical manifestations and laboratory tests were different, the final death in 8 cases, up to 80.0%. Conclusion The incidence of IMD early, clinical manifestations of different, rapid progress, high mortality. Therefore, high-risk newborns IMD urine organic acid analysis should be carried out early to improve the early diagnosis of IMD, early treatment and improve prognosis in children.