PDF(Pubmed)
Abstract：
Background and Objectives: Phenylketonuria (PKU) is a rare genetic disorder characterized by the inability to convert the essential amino acid phenylalanine into tyrosine. Early dietary treatment can successfully prevent complications, but controversies still exist regarding the attainment of normal growth in these patients. Materials and Methods: Eighteen patients with PKU from two Romanian reference centers were compared to eighteen non-PKU controls, matched for age and gender. The comparisons used weight-for-height, weight-for-age, height/length-for-age, and body mass index-for-age z-scores from birth to three years of age. Results: The PKU study group consisted of nine boys and nine girls, with a median follow-up period of thirty-six months (interquartile range = 9.75). While median values of all four growth metrics remained within the normal range across the entire study period, weight-for-age z-scores were significantly lower in PKU patients throughout most of the study (p < 0.001). Conclusions: The persistent lower weight-for-age z-scores of the PKU patients compared to controls indicate that ongoing monitoring and potential adjustments in dietary therapy may be necessary to further optimize growth outcomes.
摘要：
背景与目的：苯丙酮尿症（PKU）是一种罕见的遗传性疾病，其特征是无法将必需氨基酸苯丙氨酸转化为酪氨酸。早期饮食治疗可以成功预防并发症，但在这些患者的正常生长方面仍然存在争议。材料和方法：将来自两个罗马尼亚参考中心的18例PKU患者与18例非PKU对照进行比较，年龄和性别相匹配。比较使用身高比体重，体重的年龄，身高/年龄长度，以及从出生到三岁的年龄体重指数z评分。结果：PKU研究组由9名男孩和9名女孩组成，中位随访期为36个月（四分位距=9.75）。虽然在整个研究期间，所有四个生长指标的中值都保持在正常范围内，在大部分研究中,PKU患者的年龄体重z评分均显著较低(p<0.001).结论：与对照组相比，PKU患者的年龄体重z评分持续较低，这表明持续监测和饮食治疗的潜在调整可能是进一步优化生长结果的必要。
