1例cblC型新生儿甲基丙二酸尿症伴同型半胱氨酸血症诊治经过并文献复习
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摘要
目的:总结新生儿甲基丙二酸尿症(MMA)伴同型半胱氨酸血症的临床资料,为临床医师提供借鉴。方法:总结我院收治的1例新生儿MMA伴同型半胱氨酸血症患儿临床表现、病情变化过程、诊断和治疗结果。结果:新生儿MMA伴同型半胱氨酸血症患儿临床表现有纳差、精神反应差、呕吐、黄疸、肌张力及原始反射异常、皮肤改变、眼神改变、营养不良、体质量下降、贫血、脑损伤等。血常规有红细胞、白细胞、血小板减少、血氨升高。确诊需要血、尿代谢分析及基因分型。虽经合理治疗,但早发型MMA病情好转慢。结论:新生儿MMA伴同型半胱氨酸血症的临床表现缺乏特异性,早发型病情较重,进展较快,MMA伴同型半胱氨酸血症常有蛋氨酸降低。血液串联质谱、尿气相质谱检测结果、基因检测可以确诊。如能及时予以正确诊断治疗,可挽救患儿生命,改善预后。
Objective: To summarize the clinical data of neonatal methylmalonic aciduria( MMA) complicated with homocysteinemia,so as to provide reference for the clinicians.Methods: The clinical manifestations,changes of diseases condition,diagnosis and treatment results of a case of neonatal MMA complicated with homocysteineemia in our hospital were summarized. Results: The main clinical manifestations of neonatal MMA complicated with homocysteineemia were anorexia,poor mental reaction,vomiting,jaundice,abnormal muscle tone and primitive reflex,skin changes,eye changes,malnutrition,weight loss,anemia and brain damage.Blood routine were red blood cells,white blood cells,thrombocytopenia and elevated blood ammonia.Diagnosis required blood and urine metabolism analysis and genotyping.Although it was treated reasonably,the early-onset condition of MMA was getting better slowly.Conclusion: The clinical manifestations of neonatal MMA complicated with homocysteinemia are lack of specificity,and the early onset is more serious and progresses faster,MMA complicated with homocysteinemia often has methionine reduction. Blood tandem mass spectrometry,urine gas chromatography mass spectrometry results,and genetic testing can confirm the diagnosis.Proper diagnosis and treatment in time can save the lives of children and improve the prognosis.
Objective: To summarize the clinical data of neonatal methylmalonic aciduria( MMA) complicated with homocysteinemia,so as to provide reference for the clinicians.Methods: The clinical manifestations,changes of diseases condition,diagnosis and treatment results of a case of neonatal MMA complicated with homocysteineemia in our hospital were summarized. Results: The main clinical manifestations of neonatal MMA complicated with homocysteineemia were anorexia,poor mental reaction,vomiting,jaundice,abnormal muscle tone and primitive reflex,skin changes,eye changes,malnutrition,weight loss,anemia and brain damage.Blood routine were red blood cells,white blood cells,thrombocytopenia and elevated blood ammonia.Diagnosis required blood and urine metabolism analysis and genotyping.Although it was treated reasonably,the early-onset condition of MMA was getting better slowly.Conclusion: The clinical manifestations of neonatal MMA complicated with homocysteinemia are lack of specificity,and the early onset is more serious and progresses faster,MMA complicated with homocysteinemia often has methionine reduction. Blood tandem mass spectrometry,urine gas chromatography mass spectrometry results,and genetic testing can confirm the diagnosis.Proper diagnosis and treatment in time can save the lives of children and improve the prognosis.
引文
[1]刘玉鹏,马艳艳,吴桐菲,等.早发型甲基丙二酸尿症160例新生儿期异常表现[J].中华儿科杂志,2012,50(6):410-414.
[2]刘玉鹏,杨艳玲.甲基丙二酸尿症cblC型合并同型半胱氨酸血症的临床与实验室研究进展[J].中华儿科杂志,2013,51(4):313-316.
[3]OGIER DE BAULNY H,BENOIST J F,RIGAL O,et al.Methylmalonic and propionic acidaemias:Management and outcome[J].J Inherit Metab Dis,2005,28(3):415-423.
[4]李朝阳,李春花,孙浩,等.甲基丙二酸血症合并同型半胱氨酸尿症临床分析[J].中西医结合心脑血管病杂志,2014,12(11):1431-1432.
[5]刘玉鹏,丁圆,李溪远,等.单纯型甲基丙二酸尿症126例的临床表型与基因型研究[J].中华实用儿科临床杂志,2015,30(20):1538-1541.
[6]江载芳,申昆玲,沈颖.诸福棠实用儿科学[M].第8版.北京:人民卫生出版社,2015:2284.
[7]黄倬,韩连书,叶军,等.甲基丙二酸血症患者143例资料分析[J].中华内分泌代谢杂志,2014,30(6):490-494.
[8]FUCHS L R,ROBERT M,INGSTER-MOATI I,et al.Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria[J].J AAPOS,2012,16(4):370-375.
[9]MARTINELLI D,DEODATO F,DIONISI-VICI C.Cobalamin Cdefect:Natural history,pathophysiology,and treatment[J].JInherit Metab Dis,2011,34(1):127-135.
[10]黄俾,韩连书,叶军,等.甲基丙二酸血症合并同型半胱氨酸尿症患者治疗效果分析[J].中华儿科杂志,2013,51(3):194-198.
[2]刘玉鹏,杨艳玲.甲基丙二酸尿症cblC型合并同型半胱氨酸血症的临床与实验室研究进展[J].中华儿科杂志,2013,51(4):313-316.
[3]OGIER DE BAULNY H,BENOIST J F,RIGAL O,et al.Methylmalonic and propionic acidaemias:Management and outcome[J].J Inherit Metab Dis,2005,28(3):415-423.
[4]李朝阳,李春花,孙浩,等.甲基丙二酸血症合并同型半胱氨酸尿症临床分析[J].中西医结合心脑血管病杂志,2014,12(11):1431-1432.
[5]刘玉鹏,丁圆,李溪远,等.单纯型甲基丙二酸尿症126例的临床表型与基因型研究[J].中华实用儿科临床杂志,2015,30(20):1538-1541.
[6]江载芳,申昆玲,沈颖.诸福棠实用儿科学[M].第8版.北京:人民卫生出版社,2015:2284.
[7]黄倬,韩连书,叶军,等.甲基丙二酸血症患者143例资料分析[J].中华内分泌代谢杂志,2014,30(6):490-494.
[8]FUCHS L R,ROBERT M,INGSTER-MOATI I,et al.Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria[J].J AAPOS,2012,16(4):370-375.
[9]MARTINELLI D,DEODATO F,DIONISI-VICI C.Cobalamin Cdefect:Natural history,pathophysiology,and treatment[J].JInherit Metab Dis,2011,34(1):127-135.
[10]黄俾,韩连书,叶军,等.甲基丙二酸血症合并同型半胱氨酸尿症患者治疗效果分析[J].中华儿科杂志,2013,51(3):194-198.