Summar M, Tuchman M
Division of Medical Genetics, Vanderbilt University, Nashville, Tennessee, USA.
J Pediatr. 2001 Jan;138(1 Suppl):S6-10. doi: 10.1067/mpd.2001.111831.
In an effort to develop standards for the treatment of patients with urea cycle disorders, a consensus conference was held in Washington, DC, from April 27-29, 2000. Conference participants included physicians, scientists, nurses, dieticians, and a genetic counselor, all experts in their various medical fields in these diseases. Representatives from the Food and Drug Administration and the National Urea Cycle Disorders Foundation, a parents support group, also participated in the conference. The goals set forth for the conference were to (1) reach a consensus on diagnostic and therapeutic guidelines for urea cycle disorders with the most up-to-date information and the experience of experts in the field, (2) establish a collaborative network of health care professionals to advance the cause of patients with urea cycle disorders in the areas of clinical management and research, and (3) provide help to health care providers in the recognition and management of these complex disorders by publishing the proceedings of the conference in a widely read journal. The articles that follow this introduction represent the current state of knowledge on the topics addressed in the conference and a summary of the discussions that followed each of the presentations. With input from all the participants, we tried to cover those topics that were believed to be the most relevant both to the experts and to patients. As the reader will appreciate, many unresolved and controversial issues pertaining to treatment have yet to be studied by rigorous scientific methods. On the other hand, there are many issues on which the panel agreed. In many instances the availability of reliable information on the respective topics determined whether consensus could be reached.
为制定尿素循环障碍患者的治疗标准，2000年4月27日至29日在华盛顿特区召开了一次共识会议。与会者包括医生、科学家、护士、营养师和一名遗传咨询师，他们都是这些疾病各医学领域的专家。食品药品监督管理局和全国尿素循环障碍基金会（一个家长支持组织）的代表也参加了会议。会议设定的目标是：（1）依据该领域专家的最新信息和经验，就尿素循环障碍的诊断和治疗指南达成共识；（2）建立一个医疗保健专业人员协作网络，以在临床管理和研究领域推动尿素循环障碍患者的事业发展；（3）通过在一份广泛发行的期刊上发表会议论文集，为医疗保健提供者在识别和管理这些复杂疾病方面提供帮助。本引言之后的文章代表了会议所讨论主题的当前知识状态以及每场报告之后讨论内容的总结。在所有与会者的参与下，我们试图涵盖那些被认为对专家和患者都最相关的主题。读者将会意识到，许多与治疗相关的未解决和有争议的问题尚未通过严格的科学方法进行研究。另一方面，专家小组在许多问题上达成了一致。在很多情况下，各主题可靠信息的可得性决定了是否能够达成共识。
