1例甲基丙二酸血症救治体会

One Case of Methyl Malonic Acid Hematic Disease Treatment

目的探讨1例以溶血尿毒综合征为主要表型的甲基丙二酸血症患儿的临床表型及治疗方法。方法研究对象为1例收入山东大学齐鲁儿童医院儿童重症医学科治疗的患儿。患儿男,3月24天,入院后经检查明确诊断:溶血尿毒综合征、溶血性贫血,给予抗感染、纠正酸中毒、改善肾脏功能、输血纠正贫血等常规治疗,并给予血浆置换及血液滤过治疗,患儿病情好转,但停止血液净化后病情再次反复,行血筛、尿筛均提示甲基丙二酸血(尿)症。治疗上,补充维生素B12、L-肉碱,再次行血液净化治疗。结果治疗后复查肾功能好转,溶血停止,患儿好转出院。结论甲基丙二酸血症以溶血尿毒综合征起病,年龄小、起病早、存在生长发育异常、病史迁延难治的溶血尿毒综合征应行遗传代谢病筛查排除代谢性疾病。甲基丙二酸血症除常规给予纠正酸中毒及电解质紊乱、补充维生素B12、L-肉碱、限制蛋白等外,早期给予血液净化治疗能有效控制病情、改善预后。

Objective To investigate the clinical phenotype and treatment of methamphetamine in children with hemolytic uremic syndrome as the main phenotype.Methods One case of children with children's intensive care in Qilu Children's Hospital of Shandong University.One male child patient,24 days to 3 months,with a clear diagnosis:hemolytic uremic syndrome,hemolytic anemia.Given anti-infection,correct acidosis,improve kidney function,correct anemia and other conventional treatment,and also given plasma replacement and hemofiltration therapy.The condition of the patient improved,but aggravated after stopping the hemofiltration treatment.Line blood sieve,urinary sieve are prompted Methylmalonic acidemia.On treatment,given vitamin B12,L-carnitine,and then hemofiltration treatment.Results After treatment,renal function improved,hemolysis stopped,the children improved and discharged.Conclusion Methylmalonic acidemia with hemolytic uremic syndrome onset,also has a young age,early onset,growth and development abnormalities,the history of persistent refractory hemolytic uremic syndrome should be genetic metabolic disease screening exclusion of metabolic diseases.Methylmalonic acidemia administered in addition to conventional correction of acidosis,vitamin B12,L-carnitine,limiting protein,the early administration blood purification therapy can effectively control the disease and improve prognosis.