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北京大学第一医院儿科,北京,100034
纸质出版日期:2022,
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张 尧, 杨艳玲. 重视高氨血症的早期诊断与精准干预[J]. 重庆医科大学学报, 2022,47(3):285-289.
Zhang Yao, Yang Yanling. Emphasis on the early diagnosis and precise intervention of hyperammonemia[J]. Journal of Chongqing Medical University, 2022,47(3):285-289.
高氨血症是一种严重的代谢紊乱,如果不及时控制,可导致不同程度的脑损害及肝损害,引起意识障碍、精神行为异常、脑水肿,致残、致死率很高。多种遗传和非遗传疾病可导致血氨增高。其病因复杂,如尿素循环障碍、有机酸血症、急性或慢性炎症性肝病、药物性肝损害。已知十种遗传病导致的尿素循环障碍,高氨血症是主要表现。甲基丙二酸血症、丙酸血症、异戊酸尿症等有机酸代谢病急性期常合并代谢性酸中毒及高氨血症。线粒体脂肪酸代谢病及高胰岛素高氨血症综合征急性期常发生低血糖及高氨血症。及早发现高氨血症,明确病因,才能精准治疗,改善预后,提高患者及其家庭生活质量。
Hyperammonemia is a severe metabolic disorder. If left untreated,it could lead to various degrees of damage of brain and liver,resulting in unconsciousness,psychomotor disturbance,brain edema,disability and high mortality. There may be several genetic and non-genetic diseases to cause hyperammonemia. The etiology of hyperammonemia is complex,such as urea cycle disorders,organic acidemias,acute or chronic inflammatory liver diseases and drug-induced liver damage. Ten genetic disorders are known as the causes of primary urea cycle defect,and hyperammonemia is the main manifestation. The patients of organic acid metabolic disorders,such as methylmalonic acidemia,propionic acidemia and isovaleriuria,are often complicated with metabolic acidosis and hyperammonemia at the acute stage. The patients of mitochondrial fatty acid metabolic disorders and hyperinsulinemic hyperammonemia syndrome are usually presented with hypoglycemia and hyperammonemia in the acute phase. Early detection of hyperammonemia,etiological diag-nosis and precise treatment are keys to improve the prognosis and the quality of life of patients and their families.
高氨血症尿素循环障碍有机酸血症遗传代谢病脑病肝病
hyperammonemiaurea cycle disorderorganic acidemiainherited metabolic disorderencephalopathyliver disease
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