Current strategies for the management of neonatal urea cycle disorders
Current strategies for the management of neonatal urea cycle disorders
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DOI：
10.1067/mpd.2001.111834
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发表时间：
2001-01-01
影响因子：
5.1
通讯作者：
Summar, M
中科院分区：
文献类型：
--
作者：
Summar, M
多年来，患有尿素循环障碍的新生儿的治疗已发展成为一项复杂的多学科工作。复杂性源于必须同时解决的问题数量。在华盛顿特区举行的尿素循环障碍共识会议上，召集了一个由医生和其他在该领域拥有丰富经验的专业人士组成的小组，以使这项任务系统化。这份手稿是该小组集体意见和经验的浓缩。未经治疗或治疗不当的尿素循环障碍患者的结果普遍较差。尽管即使采用最好的治疗，良好的结果并不总是可行，但本文概述的方法应该通过借鉴其他治疗尿素循环障碍患者的经验来帮助治疗此类患者。本文并不是治疗患有这些疾病的儿童的最终结论。然而，通过建立一些共同点，可以尝试新方法并与现有方法进行比较。在基因疗法有望“治愈”这些疾病的未来，在关键的新生儿时期争取最佳结果是一个值得追求的目标。
The treatment of newborns with urea cycle disorders has evolved over the years into a complex multidisciplinary effort. The complexity derives from the number of issues that must be addressed simultaneously. At the Urea Cycle Disorders Consensus Meeting held in Washington, D.C., a panel of physicians and other professionals with extensive experience in this field was assembled to bring some systematization to this task. This manuscript is a condensation of the collective opinion and experience of that group. The outcome of untreated or poorly treated patients with urea cycle disorders is universally bad. Although a favorable outcome is not always feasible, even with the best therapy, the methods outlined here should help treat such a patient by drawing on the experience of others who have treated patients with urea cycle disorders. This article does not purport to be the final word in treating children with these disorders. However, by establishing some common ground, new methods can be tried and compared with existing ones. In a future that holds the prospect of gene therapy "cures" for these diseases, striving for the best possible outcome in the critical newborn period is a worthy goal.