Nøhr Thomas Kromann, Eriksen Peter Lykke, Lund Allan, Vilstrup Hendrik, Thomsen Karen Louise
Ugeskr Laeger. 2021 Mar 29;183(13).
Hyperammonaemic encephalopathy (HAE) in adults in the absence of acute or chronic liver disease is a severe condition caused by inborn errors of metabolism or acquired conditions like bariatric surgery, medications or malignancy as summarised in this review. Metabolic defects are most often caused by partial defects in the urea cycle enzymes demasked by stressors, whereas mechanisms underlying the acquired causes are complex and often multifactorial. Awareness of HAE and knowledge of the causes can help the clinician to deal appropriately with patients presenting with symptoms suggesting HAE and no signs of liver disease.
在无急性或慢性肝病的成人中，高氨血症性脑病（HAE）是一种严重疾病，由先天性代谢缺陷或诸如减肥手术、药物或恶性肿瘤等后天性疾病引起，本综述对此进行了总结。代谢缺陷最常由应激源掩盖的尿素循环酶部分缺陷引起，而后天性病因的潜在机制复杂且往往是多因素的。认识HAE并了解其病因有助于临床医生妥善处理出现提示HAE症状且无肝病迹象的患者。
