Berry G T, Steiner R D
Division of Human Genetics and Molecular Biology, Department of Pediatrics, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Pennsylvania 19104-4399, USA.
J Pediatr. 2001 Jan;138(1 Suppl):S56-60; discussion S60-1. doi: 10.1067/mpd.2001.111837.
The long-term treatment of patients with urea cycle disorders (UCDs) includes diet treatment and use of specific medications. Guidelines are provided for patients with a severe phenotype. However, treatment must be tailored for each individual, especially with regard to residual enzyme function and in vivo metabolic capacity. This will be reflected in tests used for monitoring therapy that should be performed on a periodic basis. The goal of therapy is to eliminate chronic complications, a laudable but rarely attainable goal. Sick-day rules are discussed. Chronic management also includes diverse services that are essential to the success of the metabolic program. These include neurologic and developmental evaluations, feeding team evaluation and therapy, physical and occupational therapies, speech therapy, school and educational services, social service intervention, psychologic services, and genetic counseling.
尿素循环障碍（UCDs）患者的长期治疗包括饮食治疗和使用特定药物。针对具有严重表型的患者提供了指南。然而，治疗必须针对每个个体进行调整，特别是在残余酶功能和体内代谢能力方面。这将反映在用于监测治疗的测试中，这些测试应定期进行。治疗的目标是消除慢性并发症，这是一个值得称赞但很少能实现的目标。文中讨论了患病日规则。慢性管理还包括对代谢项目成功至关重要的各种服务。这些服务包括神经和发育评估、喂养团队评估和治疗、物理和职业治疗、言语治疗、学校和教育服务、社会服务干预、心理服务以及遗传咨询。
