Acta Metallurgica Sinica

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Diagnosis and treatment of metabolic encephalopathy in children.

BAO Xin-hua.   

  1. Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China
  • Online:2014-08-06 Published:2014-07-28

儿童遗传代谢性脑病的诊断及治疗

包新华   

  1. 作者单位:北京大学第一医院儿科,北京 100034

Abstract:

Abstract:Due to the metabolic disturbance, hyperammonemia, hypoglycemia, metabolic acidosis and energy deficiency usually presented in many kinds of Inborn Errors of Metabolism (IEM), which could cause metabolic encephalopathy with poor outcome. The blood and urine samples collected and tested during the acute stage were very important for the early diagnosis and proper treatment. Early initiation of management including supportive therapy, removal of toxic metabolite, provision of optimum vitamins and cofactors, specific drugs and special dietary management, was critical for increasing the survival rate and decreasing the morbidity.

Key words: inborn errors of metabolism, metabolic encephalopathy, diagnosis, treatment

摘要:

多种遗传代谢病因代谢障碍导致高血氨、低血糖、酸中毒以及能量缺乏等,引起脑功能障碍,产生急性代谢性脑病,危及生命。急性期的辅助检查,对早期诊断,恰当治疗至关重要。积极的支持治疗,清除有毒代谢产物治疗,提供相应的维生素和辅助因子,特异性的药物治疗以及特殊饮食治疗,可以提高生存率,减少后遗症。

关键词: 遗传代谢病, 代谢性脑病, 儿童

CLC Number: