Kromas Michelle L, Mousa Omar Y, John Savio
Michelle L Kromas, Department of Anesthesiology, SUNY Upstate Medical University, Syracuse, NY 13210, United States.
World J Hepatol. 2015 May 8;7(7):1007-11. doi: 10.4254/wjh.v7.i7.1007.
The clinical manifestations of hyperammonemia are usually easily identifiable to the clinician when associated with liver disease and lead to prompt diagnosis and treatment. However, hyperammonemia-induced encephalopathy is rare in adults in the absence of overt liver disease, thus diagnosis is often delayed or missed leading to potentially life threatening complications. Without proper treatment, such patients can decompensate rapidly with poor outcomes including seizures, coma, and death. Early assessment of plasma ammonia levels in patients with normal hepatic function and characteristic symptoms of encephalopathy can lead to early intervention while investigating the underlying etiology. We describe a patient who presented with a 2-year progression of waxing and waning acute mental status changes after a Roux-en-Y gastric bypass surgery. He was found to have elevated ammonia level as well as orotic aciduria; results consistent with a urea cycle disorder. After consulting neurology as well as toxicology, he ultimately improved after dietary protein restriction, sodium benzoate and lactulose therapy. While rare, clinicians should have a high index of suspicion for late onset urea cycle disorders in symptomatic patients presenting with encephalopathy secondary to hyperammonemia.
当高氨血症与肝脏疾病相关时,其临床表现通常很容易被临床医生识别,并能促使及时诊断和治疗。然而,在没有明显肝脏疾病的成年人中,高氨血症诱发的脑病很少见,因此诊断往往会延迟或漏诊,从而导致潜在的危及生命的并发症。如果没有适当的治疗,这类患者可能会迅速失代偿,预后不良,包括癫痫发作、昏迷和死亡。对肝功能正常且有脑病特征性症状的患者进行血浆氨水平的早期评估,可在调查潜在病因的同时实现早期干预。我们描述了一名患者,他在接受Roux-en-Y胃旁路手术后,急性精神状态变化呈反复出现、持续两年的进展过程。他被发现氨水平升高以及存在乳清酸尿症;结果与尿素循环障碍一致。在咨询神经科和毒理学专家后,他在限制饮食蛋白质、接受苯甲酸钠和乳果糖治疗后最终有所改善。虽然罕见,但对于出现因高氨血症继发脑病的有症状患者,临床医生应高度怀疑迟发性尿素循环障碍。