摘要
目的:探讨甲基丙二酸血症的早期诊断及治疗干预方法。方法:总结国内外45例甲基丙二酸血症患儿的临床症状和实验室检查情况,分析其诊治及转归情况。结果:对有不明原因酸中毒,意识障碍,惊厥,肌张力低下以及体格及智力发育落后甚至倒退的患儿应引起高度重视,血尿气相色谱/质谱联用分析(GC/MS)可确诊该病,该病的治疗可分为维生素B12(VB12)有效型及无效型两类,维生素B12有效型可采用VB12注射及限制饮食的方法进行干预;对维生素B12无效型患者采取饮食限制的方法加以干预,晚期肾功能衰竭行肝肾移植可改善此类患儿预后,但不确定是否能改善远期预后。结论:对疑似患儿及时进行GC/MS尿有机酸分析可早期诊断本症,对确诊本病的患儿进行早期干预可明显改善预后。
Objective：To investigate the early diagnosis and therapy of methylmalonic acidemias.Methods：The 45 cases of methylmalonic acidemias were sam marized with the focus on the clinical symptom and laboratory examination,analysis of the management and the outcome of these patients.Results：We should pay close attention to those children who suffered from unreasonable metabolic acidosis,coma,seizures,hypotonia,physical and mental development delay,Almost all of these case,a remarkable elevation of plasma methylmalonic acid concentration was confirmed using gas chromatography/mass spectrometry（GC/MS）analysis.The patients could be classified into vitamin B12 responsive and vitamin B12 unresponsive.To vitamin B12 responsive case,the patients should be treated with vitamin B12 injection combined with diet restriction,to vitamin B12 unresponsive case,a strict diet restriction and at the end-stage renal failure with combined liver-kidney transplantation were the way to improve the clinical condition and amelioratd mental development,but it was not certain whether the later method would provide better result on the long-term outcome.Conclusion：Early diagnosis could be made by GC/MS analysis serum methylmalonic acid level of suspected children.Earlier and appropriate interventions might improve the prognosis markedly.
出处
《华西医学》
CAS
2008年第3期509-510,共2页
West China Medical Journal
关键词
甲基丙二酸血症
气相色谱/质谱分析
维生素B
methylmalonic acidemias,gas chromatography/mass spectrometry（GC/MS）,vitamin B12
