Wappner R, Cho S, Kronmal R A, Schuett V, Seashore M R
Riley Hospital for Children, Section of Pediatric Metabolism/Genetics, Indianapolis, Indiana, USA.
Pediatrics. 1999 Dec;104(6):e68. doi: 10.1542/peds.104.6.e68.
The development of guidelines for phenylketonuria (PKU) management in the United Kingdom has resulted in much discussion in the community of parents and PKU clinics and parents have asked why the United States does not have such guidelines. The objective of this report is to discuss PKU management in the United States, the British guidelines on PKU management, and the feasibility, suitability, and mechanism of developing PKU management guidelines in the United States.
Members of the American Academy of Pediatrics (AAP) Committee on Genetics (COG) reviewed the literature and conducted surveys of parents of children with PKU, young adults with PKU, and directors of PKU clinics in the United States. A meeting was held at the National Institute of Child Health and Human Development to review the AAP/COG efforts at reviewing the status of PKU management and guideline development in the United States.
The British guidelines are more stringent than the PKU management practices in many parts of the United States. Evidence exists that stricter management improves developmental outcome. The parents who responded to the surveys indicated willingness to comply with more stringent dietary management if that would improve outcome. They also identified problems that make such management difficult. The clinic directors supported the timeliness of the review. Some had begun a trend toward more stringent control of blood phenylalanine concentrations, at least in the first 4 years of life.
The AAP Committee on Genetics will complete its subject review of the management of PKU. Guidelines for care of PKU in the United States probably would look quite similar to the existing guidelines in other countries. The parents surveyed supported more stringent PKU management, but information from a broader distribution of parents would provide a more representative view. The status of the US health care system creates problems for improved PKU management in the United States that do not exist in the countries already following stricter guidelines.
英国苯丙酮尿症（PKU）管理指南的制定在患儿家长群体以及PKU诊所引发了诸多讨论，家长们询问为何美国没有此类指南。本报告的目的是探讨美国的PKU管理情况、英国的PKU管理指南，以及在美国制定PKU管理指南的可行性、适用性和机制。
美国儿科学会（AAP）遗传学委员会（COG）的成员查阅了文献，并对美国PKU患儿的家长、PKU青年患者以及PKU诊所主任进行了调查。在美国国立儿童健康与人类发展研究所召开了一次会议，以审查AAP/COG在评估美国PKU管理现状和指南制定方面所做的工作。
英国的指南比美国许多地区的PKU管理实践更为严格。有证据表明，更严格的管理可改善发育结局。参与调查的家长表示，如果更严格的饮食管理能改善结局，他们愿意遵守。他们还指出了使这种管理变得困难的问题。诊所主任支持此次审查的及时性。一些诊所已开始朝着更严格控制血苯丙氨酸浓度的方向发展，至少在生命的头4年是这样。
AAP遗传学委员会将完成其对PKU管理的主题审查。美国PKU护理指南可能会与其他国家现有的指南非常相似。接受调查的家长支持更严格的PKU管理，但来自更广泛家长群体的信息将提供更具代表性的观点。美国医疗保健系统的状况给美国改善PKU管理带来了一些在已经遵循更严格指南的国家不存在的问题。
