Unmasked adult-onset urea cycle disorders in the critical care setting
Unmasked adult-onset urea cycle disorders in the critical care setting
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DOI：
10.1016/j.ccc.2005.05.002
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发表时间：
2005-10-01
影响因子：
4.3
通讯作者：
Christman, BW
中科院分区：
文献类型：
--
作者：
Summar, ML;Barr, F;Christman, BW
大多数情况下，尿素循环障碍被描述为新生儿期急性发作的高氨血症;然而，越来越多的人意识到尿素循环障碍几乎可以出现在任何年龄，通常发生在重症监护环境中。本文介绍了三例成人发病的高氨血症引起的遗传缺陷的氮处理在尿素循环，并审查诊断，管理和病理生理的成人发病的尿素循环障碍。有轻度分子尿素循环缺陷的人可以过着相对正常的生活，直到严重的环境压力引发高氨血症危机。合并症，如物理创伤往往延误诊断的尿素循环缺陷。及时的识别和治疗对于确定这些患者的结果至关重要。
Most often, urea cycle disorders have been described as acute onset hyperammonemia in the newborn period; however, there is a growing awareness that urea cycle disorders can present at almost any age, frequently in the critical care setting. This article presents three cases of adult-onset hyperammonemia caused by inherited defects in nitrogen processing in the urea cycle, and reviews the diagnosis, management, and pathophysiology of adult-onset urea cycle disorders. Individuals who have milder molecular urea cycle defects can lead a relatively normal life until a severe environmental stress triggers a hyperammonemic crisis. Comorbid conditions such as physical trauma often delay the diagnosis of the urea cycle defect. Prompt recognition and treatment are essential in determining the outcome of these patients.