Urea cycle disorders: Clinical presentation outside the newborn period
Urea cycle disorders: Clinical presentation outside the newborn period
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DOI：
10.1016/j.ccc.2005.05.007
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发表时间：
2005-10-01
影响因子：
4.3
通讯作者：
Summar, M
中科院分区：
文献类型：
--
作者：
Smith, W;Kishnani, PS;Summar, M
虽然最常见的与婴儿期有关，但大多数尿素循环障碍（ucd）患者出现在新生儿期之外，通常在儿童期。体征和症状往往不明确，但反复出现；与急性疾病相关的暴发性表现也很常见。反复出现症状的儿童应考虑尿素循环代谢障碍，特别是与代偿期相关的神经系统异常。常规实验室检查，包括测定血浆氨浓度，可提示潜在的UCD；然而，特定的代谢测试和最终的酶或分子确认是必要的，以建立诊断。在儿童中，通过限制饮食蛋白质和药物治疗可能具有挑战性。
Although most commonly associated with infancy, the majority of individuals with urea cycle disorders (UCDs) present outside the neonatal period, frequently in childhood. Signs and symptoms are often vague, but recurrent; fulminant presentations associated with acute illness are also common. A disorder of urea cycle metabolism should be considered in children who have recurrent symptoms, especially neurologic abnormalities associated with periods of decompensation. Routine laboratory tests, including measurement of plasma ammonia concentrations, can indicate a potential UCD; however, specific metabolic testing and ultimately enzymatic or molecular confirmation are necessary to establish a diagnosis. Treatment with dietary protein restriction and medications may be challenging in children.