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甲基丙二酸血症26例临床分析并文献复习

Clinical analysis of methylmalonic acidmia in 26 cases and literatare review

摘要:

目的 探讨甲基丙二酸血症的临床特征和治疗方法.方法 对26例甲基丙二酸血症患儿的临床表现、辅助检查及诊疗情况进行分析.结果 26例患儿中主要临床表现:24例神经系统受累,9例肾脏受累,8例血液系统受累,2例肝脏受累,3例心脏受累,1例肺部受累.气相色谱-质谱法尿有机酸分析显示26例患儿尿甲基丙二酸浓度均明显高于正常.12例失代偿性代谢性酸中毒,8例血同型半胱氨酸升高.头颅CT检查6例中5例异常,MRI检查10例全部异常.19例确诊患儿接受维生素B12治疗,辅以低蛋白饮食及左旋肉碱治疗.对治疗的15例进行平均8.5个月的随访.2例死于严重代谢性酸中毒,12例神经系统症状明显好转,8例以肾脏受累起病的患儿出院后多次复查尿常规、肾功能均正常.结论 甲基 丙二酸血症临床特征差异很大,及早进行气相色谱-质谱法尿有机酸分析明确诊断至关重要,确诊后坚持长期合理治疗是改善预后的有效方法.

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abstracts:

Objective To explore the clinical characteristics and treatment of methylmalonic acidemia(MMA) in order to improve our understanding of it.Methods We analyzed the clinical manifestations,laboratory examinations and treatments of 26 cases of methylmalonic acidemia in children.Results Twenty-four cases were involved in nervous system.Nine patients were involved in renal system.Eight cases of hematological involved.Liver enzyme elevated in 2 cases as well as the cardiac system were involved in 3 cases.One case was with pneumonia onset.The laboratory findings showed metabolic acidosis in 12 cases,hyperhomocysteinemia in 8 cases and remarkable elevation of urinary methylmalonic acid concentration in all cases.Some abnormalities in globus pallidus and cerebral white matter as well as diffuse cerebral atrophy were noted by the brain CT and MRI in 15 cases.Sixteen children have received therapy of vitamin B12,and supplementation of L-carnitine with restricted-protein diet.The follow-up for a period ranging from 3 months to 1.5 years( mean 8.5 months) of 15 cases with medical therapy showed a favorable outcome of nervous system improvement in 12 cases,however,2 patients died from severe metabolic acidosis.8 patients with renal involvement were normal in urine routine and renal function.Conclusion Methylmalonic acidemia has different clinical features,so early urine organic acids analysis by GC/MS method is essential Long-term and reasonable treatment after diagnosis is an effective way to improve the prognosis.

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