■大剂量地塞米松抑制试验是一种常见且通常是良性的内分泌程序。我们报告了一名鸟氨酸转碳淀粉酶缺乏症(OTCD)的患者,该患者在大剂量地塞米松抑制试验后出现了高氨血症性脑病。
一名46岁的女性,患有1.3厘米的右肾上腺偶发瘤,导致轻度自主皮质醇分泌,接受了大剂量地塞米松抑制试验,以确认促肾上腺皮质激素的独立性。第二天,她带着困惑和嗜睡来到急诊室。抵达时,她的格拉斯哥昏迷评分为10分。最初的实验室结果显示氨,丙氨酸转氨酶,肌酐,血尿素氮水平为289.51(18.73-54.5)μg/dL,21(≤33)IU/L,0.6(0.6-1.1)mg/dL,和13(7-20)mg/dL,分别。脑电图显示三相形态,脑成像无病变。她的丈夫告诉我们,她的兄弟和儿子在新生儿期去世了。在进一步审查医疗记录时,我们发现她被诊断为OTCD携带者.我们服用了L-精氨酸,左旋肉碱,利福昔明,和连续性肾脏替代疗法。三天后,血清氨水平为78.34μg/dL,格拉斯哥昏迷量表评分增加15分,脑电图异常消失.
肝脏疾病和尿素循环障碍是高氨血症的主要原因。如果氨水平过高,这会导致脑病和死亡。X连锁OTCD尿素循环障碍对男性的影响更大,因为他们只有携带X染色体。糖皮质激素可加剧这种疾病,因为它们增加了转化为氨的蛋白质底物。
■此病例提醒,在给予糖皮质激素时,具有完整的病史可能尤为重要。
UNASSIGNED: The high-dose dexamethasone suppression test is a common and usually benign endocrine procedure. We report a patient with ornithine transcarbamylase deficiency (OTCD) who developed hyperammonemic encephalopathy after a high-dose dexamethasone suppression test.
UNASSIGNED: A 46-year-old woman with a 1.3-cm right adrenal incidentaloma causing mild autonomous cortisol secretion underwent a high-dose dexamethasone suppression test for confirming adrenocorticotropic hormone independency. On the next day, she presented to the emergency room with confusion and somnolence. Her Glasgow Coma Scale score was 10 on arrival. The initial laboratory results showed ammonia, alanine transaminase, creatinine, and blood urea nitrogen levels of 289.51 (18.73-54.5) μg/dL, 21 (≤33) IU/L, 0.6 (0.6-1.1) mg/dL, and 13 (7-20) mg/dL, respectively. Electroencephalography showed triphasic morphology with no pathologies on brain imaging. Her husband told us that her brother and son had died in the neonatal period. On further review of medical records, we found that she was diagnosed as an OTCD carrier. We administered L-arginine, L-carnitine, rifaximin, and continuous renal replacement therapy. After 3 days, the serum ammonia level was 78.34 μg/dL with an increased Glasgow Coma Scale score of 15, and electroencephalography abnormalities disappeared.
UNASSIGNED: Liver diseases and urea cycle disorders are the leading causes of hyperammonemia. This causes encephalopathy and death if the ammonia levels are too high. X-linked OTCD urea cycle disorder affects men more severely as they have only the carrier X chromosome. Glucocorticoids can exacerbate this disorder because they increase protein substrates converted to ammonia.
UNASSIGNED: This case reminds that it may be particularly important to have a complete medical history when administering glucocorticoids.