Maimonides Medical Center, Brooklyn, NY, USA.
J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221101855. doi: 10.1177/23247096221101855.
Elevated ammonia levels lead to cerebral edema, encephalopathy, seizures, coma, and death. Hyperammonemia is primarily associated with liver disease; however, there are rare cases without liver disease. Noncirrhotic hyperammonemia is primarily due to increased production and/or decreased elimination of ammonia. We present a rare case of a 35-year-old female with severe acute noncirrhotic hyperammonemia associated with gram-negative septic shock and a suspected undiagnosed partial urea cycle enzyme deficiency. She had elevated blood and urine amino acid levels speculated to be due to an underlying urea cycle defect, which was unmasked in the setting of septic shock with urea splitting bacteria leading to severely elevated ammonia levels. Ammonia levels were rapidly corrected with hemodialysis, as other conventional treatments failed. We highlight the importance of considering noncirrhotic causes of hyperammonemia in patients with elevated ammonia levels and intact liver function. Prompt treatment should begin with reducing the catabolic state, nitrogen scavenging, replacing urea cycle substrates, decreasing intestinal absorption, and augmented removal of ammonia with renal replacement therapy.
血氨水平升高可导致脑水肿、脑病、癫痫发作、昏迷和死亡。高血氨血症主要与肝脏疾病有关;然而,也有罕见的无肝脏疾病的病例。非肝硬化性高血氨血症主要是由于氨的产生增加和/或消除减少所致。我们报告了一例罕见的 35 岁女性患者,患有严重的急性非肝硬化性高血氨血症,伴有革兰氏阴性菌感染性休克和疑似未确诊的部分尿素循环酶缺乏症。她的血液和尿液氨基酸水平升高,推测是由于潜在的尿素循环缺陷所致,在伴有尿素分解细菌的感染性休克中,这种缺陷被暴露出来,导致血氨水平显著升高。血液透析迅速纠正了血氨水平,因为其他常规治疗方法均失败。我们强调了在血氨水平升高和肝功能正常的患者中考虑非肝硬化性高血氨血症病因的重要性。应立即开始治疗,包括减轻分解代谢状态、氮清除、补充尿素循环底物、减少肠道吸收以及通过肾脏替代治疗增强氨的清除。