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在基尿症中对饮食控制的建议有多实用?
J H Walter1, F J White, S K Hall
1Willink Biochemical Genetic Unit, Royal Manchester Children's Hospital, Manchester M27 4HA, UK. jhwalter@doctors.org.uk
Lancet (London, England)
|July 13, 2002
概括
在基尿症 (PKU) 中保持血液氨控制是具有挑战性的,特别是对于年长的儿童来说. 随着年龄的增长,治疗的坚持和监测显著下降,影响认知结果.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 基尿症 (PKU) 是一种遗传性疾病,需要终身治疗.
- 儿童时期血液中的氨酸水平对于认知发育至关重要.
- 现有与年龄相关的治疗指南用于管理PKU.
研究的目的:
- 审计PKU管理在1994-2000年间在四个中心的有效性.
- 评估遵守血氨的推水平和采样频率.
- 为了确定维持PKU控制的与年龄相关的挑战.
主要方法:
- 来自四个中心 (1994-2000) 的PKU患者数据的回顾性审计.
- 对血氨酸度与推水平的分析.
- 与指导方针相比,血液采样频率的评估.
主要成果:
- 超过推氨基水平的样本中位数在<10年内为<30%,但在≥15年内为~80%.
- 血液采样频率的中位数为>80%的推<10年,但<50%的≥15年.
- 在PKU患者中,维持代谢控制的困难随着年龄的增长而增加.
结论:
- 在患有PKU的老年青少年和成年人中,达到和维持目标血氨水平显著更困难.
- 随着年龄的增长,遵守监测协议的程度下降,这对长期健康结果构成风险.
- 需要改进的策略,以确保在整个患者一生中保持一致的PKU管理.
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