Problems in the management of urea cycle disorders
Problems in the management of urea cycle disorders
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DOI：
10.1016/j.ymgme.2003.10.016
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发表时间：
2004-04-01
影响因子：
3.8
通讯作者：
Wilcken, B
中科院分区：
文献类型：
--
作者：
Wilcken, B
最近的几篇综述描述了尿素循环障碍的管理。在饮食、替代途径治疗、急性和慢性管理中精氨酸和鸟氨酸水平的维持、病假方案和监测的某些方面有很多共识。然而，在几个领域仍然存在差异，大多数治疗中心的医生经验相对较少，因为这些疾病很罕见。早期怀疑尿素循环障碍的诊断，并及时转诊到三级中心是至关重要的。使用苯甲酸钠长期给药的药物治疗已被一些中心放弃，但苯丁酸盐的可接受性对许多患者来说是一个问题。长期使用瓜氨酸在推荐剂量下并不总是成功的，并且可能导致精氨酸水平过低而无法最大限度地控制。食欲和营养问题是常见的。一个主要的问题是早期识别和管理慢性catastrophic，理论上容易，但在实践中很难。生化测量问题使监测复杂化，并且对于确定OTC携带者的最佳方法存在分歧。在具有早发表型的家族中，无症状的新生女婴可能需要治疗一段时间，但监测的目标值并不明确。在晚发型表型中，通过家庭筛查确定的无症状配偶的管理也很困难。大多数中心没有足够的病例来解决这些难题，其中一些需要进一步的多中心研究。本文探讨了管理的共识会议的建议，概述了一些遗留的问题，并在文本中提出的公开讨论中提出的点在2003年在悉尼举行的一次专题讨论会上，题为“尿素循环障碍的新发展。“（C）2004 Elsevier Inc. All rights reserved.
Several recent reviews describe the management of urea cycle disorders. There is much agreement on diet, alternative pathway therapy, maintenance of arginine and ornithine levels in acute and chronic management, sick-day regimens, and some aspects of monitoring. However, differences remain in several areas, and physicians at most treatment centers have relatively little experience, because these disorders are rare. Early suspicion of the diagnosis of a urea cycle disorder, and prompt referral to a tertiary center is vital. Drug treatment using chronic administration of sodium benzoate has been abandoned by some centers, but the acceptability of phenylbutyrate is an issue for many patients. Using citrulline chronically is not always successful in recommended doses, and may result in an arginine level too low for maximum control. Appetite and nutrition problems are common. One major concern is the early identification and management of chronic catabolism, theoretically easy, but hard in practice. Biochemical measurement problems complicate monitoring, and there are disagreements about the optimum way of identifying OTC carriers. It is not always clear whom to treat. Within a kindred with an early-onset phenotype, an asymptomatic newborn girl may need treatment for some undetermined time, but target values for monitoring are not clear. In late-onset phenotypes, management of asymptomatic mates identified by family screening is also difficult. Most centers do not have sufficient cases to solve these conundrums, some of which require further multicenter study. This paper examines the recommendations of a consensus conference on management, outlines some remaining problems, and incorporates in the text the points raised in open discussion during a session of a symposium held in Sydney in 2003 entitled "New Developments in Urea Cycle Disorders." (C) 2004 Elsevier Inc. All rights reserved.