Ecker Miriam Eva, Paparoupa Maria, Sostmann Bernd, Weissenborn Karin, Schuppert Frank
Department of Gastroenterology, Endocrinology, Diabetology and General Medicine, Klinikum Kassel, Kassel, Germany.
Department of Intensive Care Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Case Rep Gastroenterol. 2022 May 20;16(2):313-319. doi: 10.1159/000524551. eCollection 2022 May-Aug.
Hepatic encephalopathy (HE) is a frequent and debilitating complication of liver disease and is oftentimes associated with hyperammonaemia. However, hyperammonaemia may occur in underlying conditions other than acute or chronic liver failure and clinical awareness is needed in order to be recognized and treated properly. A 24-year-old woman presented herself to our emergency department with acute confusion and altered mental state due to severe hyperammonaemia. The patient was diagnosed in the age of 14 with ornithine transcarbamylase (OTC) deficiency and was incompliant regarding her diet and suggested medication to treat this disorder. She was treated with sodium benzoate 250 mg/kg i.v., sodium phenylbutyrate/sodium phenylacetate 250 mg/kg i.v., L-arginine 250 mg/kg i.v., and received continuous hemofiltration. Under simultaneous medical treatment and haemodialysis, ammonia levels dropped to normal within 24 h and symptomatic encephalopathy ceased completely. OTC deficiency is rare in adults, and the majority of patients are diagnosed in childhood. It can lead to death if not diagnosed and treated properly. Our case underlines the importance of considering causes of HE other than liver cirrhosis.
肝性脑病（HE）是肝脏疾病常见且使人虚弱的并发症，常与高氨血症相关。然而，高氨血症可能发生在急性或慢性肝衰竭以外的其他基础疾病中，为了能得到正确的识别和治疗，需要有临床意识。一名24岁女性因严重高氨血症出现急性意识模糊和精神状态改变，前来我院急诊科就诊。该患者14岁时被诊断为鸟氨酸转氨甲酰酶（OTC）缺乏症，在饮食和建议的治疗该疾病的药物治疗方面依从性差。给予其静脉注射250mg/kg苯甲酸钠、250mg/kg苯丁酸钠/苯乙酸钠、250mg/kg L-精氨酸，并进行持续血液滤过治疗。在同时进行药物治疗和血液透析的情况下，氨水平在24小时内降至正常，症状性脑病完全消失。OTC缺乏症在成年人中罕见，大多数患者在儿童期被诊断。如果未得到正确诊断和治疗，可能会导致死亡。我们的病例强调了考虑肝硬化以外的HE病因的重要性。
