一名成人出现严重代谢性酸中毒和氧脯氨酸尿症。
Profound metabolic acidosis and oxoprolinuria in an adult.
作者信息
Hodgman Michael J, Horn James F, Stork Christine M, Marraffa Jeanna M, Holland Michael G, Cantor Richard, Carmel Patti M
机构信息
Bassett Healthcare, Cooperstown, NY, USA.
出版信息
J Med Toxicol. 2007 Sep;3(3):119-24. doi: 10.1007/BF03160921.
INTRODUCTION
Profound metabolic acidosis in critically ill adults sometimes remains unexplained despite extensive evaluation.
CASE REPORT
A 58-year-old female presented in a confused state to the emergency department; she had been confused for several days. Laboratory evaluation revealed a high anion gap metabolic acidosis and modestly elevated acetaminophen level. Lactic acid was only modestly elevated. There was no evidence of ketoacids, salicylate, methanol, or ethylene glycol. A urine sample submitted on day 1 of hospitalization revealed a markedly elevated level of 5-oxoproline.
DISCUSSION
Originally described in children with an inherited defect of glutathione synthetase, 5-oxoproline is an unusual cause of metabolic acidosis. More recently this disturbance has been recognized in critically ill adults without a recognized inherited metabolic disorder. In most of these cases there has been the concomitant use of acetaminophen. Any causal relationship between acetaminophen and this disturbance is speculative.
CONCLUSION
In critically ill adults with unexplained metabolic acidosis, 5-Oxoproline should be considered in the differential.
引言
尽管进行了广泛评估，但危重症成年患者中严重的代谢性酸中毒有时仍无法解释。
病例报告
一名58岁女性以意识模糊状态被送至急诊科；她已意识模糊数日。实验室评估显示高阴离子间隙代谢性酸中毒，对乙酰氨基酚水平适度升高。乳酸仅轻度升高。没有酮酸、水杨酸盐、甲醇或乙二醇的证据。住院第1天提交的一份尿液样本显示5-氧脯氨酸水平显著升高。
讨论
5-氧脯氨酸最初在患有谷胱甘肽合成酶遗传性缺陷的儿童中被描述，是代谢性酸中毒的一种不寻常病因。最近，这种紊乱在没有公认遗传性代谢疾病的危重症成年患者中也得到了认识。在大多数这些病例中，患者同时使用了对乙酰氨基酚。对乙酰氨基酚与这种紊乱之间的任何因果关系都是推测性的。
结论
在患有无法解释的代谢性酸中毒的危重症成年患者中，鉴别诊断时应考虑5-氧脯氨酸。
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