新生儿有机酸血症22例误诊学分析

Analysis the misdiagnosis of twenty newborns with organic acid hematic disease

目的探讨有机酸血症的临床特点,减少误诊。方法对2008年1月至2012年12月在我院新生儿科住院的22例应用气相色谱-质谱联用有机酸分析法(GC-MS)确诊的有机酸血症患儿做回顾性分析,总结临床特点,减少临床误诊发生,比较早期检查对患儿治疗效果的影响。结果 22例患儿均应用气相色谱-质谱联用有机酸分析法(GC-MS)确诊为有机酸血症,其中甲基丙二酸血症14例,丙酸血症6例,戊二酸血症2例;对可疑有机酸尿症的患儿,应早期做气相色谱-质谱联用有机酸分析法(GC-MS)检查,早期治疗临床治愈率较高。结论新生儿有机酸血症表现复杂,临床症状不典型,极易误诊,且病死率高。应早发现、早诊断、早治疗,减少误诊率、死亡率。

Objective Explorring the clinical characteristics of organic acid hematic diease to reduce misdiagnosis.Methods In January 2008-December 2012 in twenty-two cases of our hospital neonatal units in the application of gas chromatography-mass spectrometry（GC-MS） diagnosed with organic acid analysis organic acid hematic disease children do retrospective analysis,summarizes the clinical characteristics,reduce the clinical misdiagnosis occurs,comparison of early detection for the treatment of children with effect.Results 22 cases were using gas chromatography-mass spectrometry（GC-MS） diagnosed with organic acid organic acid analysis hematic disease,including 14 cases of methyl malonic acid hematic disease propionic acid hematic disease, 6 cases glutaric acidemia in 2 cases;Suspicious organic acids enuresis of children,should be early to do gas chromatography-mass spectrometry organic acid analysis（GC-MS） examination,early treatment,clinical cure rate is higher.Conclusion Neonatal organic acid hematic disease complex and atypical clinical symptoms, misdiagnosis easily,and the case fatality rate is high.Should be early discovery,early diagnosis,early treatment, reduce the misdiagnosis rate and mortality.