目的 探讨苯丙酮尿症(phenylketonuria, PKU)患儿的生长参数,并评估苯丙氨酸限制饮食对其体格发育的影响。 方法 研究对象为伊拉克巴格达中央儿童教学医院通过新生儿筛查确诊的39例PKU患儿。在定期月度随访中收集数据,包括苯丙氨酸水平、饮食依从性及人体测量学指标。根据3年随访期间患儿的苯丙氨酸水平将患儿分为两组:饮食控制良好组(平均苯丙氨酸水平<360 μmol/L,且单次检测值均未超过600 μmol/L;n=14)和饮食控制不良组(随访期间一次或多次苯丙氨酸测定值高于600 μmol/L;n=25)。比较两组患儿3~36月龄期间生长指标的差异。 结果 在出生时及3、6、9、12、15、18、21、24、36月龄各时间点,饮食控制良好组的平均身高均高于饮食控制不良组,但仅在3月龄时差异有统计学意义。身高Z评分呈现更清晰的模式:尽管饮食控制不良组出生时身高Z评分较高(P=0.001),但饮食控制良好组在3、6、12、15、18、24和36月龄时的身高Z评分均显著高于饮食控制不良组(P<0.05)。在3、6、9、15、18和21月龄时,饮食控制良好组的平均体重显著高于饮食控制不良组(P<0.05)。在6~36月龄期间,饮食控制良好组的体重Z评分持续显著高于饮食控制不良组(P<0.05)。36月龄时,饮食控制良好组展现出优于饮食控制不良组的身高和体重Z评分分布,但差异无统计学意义(P>0.05);两组患儿的身高和体重Z评分均处于正常范围内。 结论 接受良好饮食控制的PKU患儿,其生长参数优于饮食控制不良者;两组患儿的身高和体重Z评分均维持在正常范围,表明该队列患儿的总体体格发育基本正常。
Objective To investigate the growth parameters of children with phenylketonuria and assess the impact of a phenylalanine-restricted diet on their physical development. Methods The study involved 39 children diagnosed with phenylketonuria through newborn screening at the Central Child Teaching Hospital, Baghdad, Iraq. Data were collected during scheduled monthly check-ups, including phenylalanine levels, diet compliance, and anthropometric measurements. The children were divided into two groups based on their phenylalanine levels during the 3-year follow-up period: well-controlled group (average phenylalanine level of less than 360 μmol/L, with no single reading exceeding 600 μmol/L; n=14) and poorly-controlled group (one or more phenylalanine readings above 600 μmol/L during the follow-up period; n=25). Results The mean height readings for all time points (at birth and 3, 6, 9, 12, 15, 18, 21, 24 and 36 months of age) were higher in the well-controlled group than the poorly-controlled group, however, only at 3 months of age the difference was statistically significant. Height Z-scores revealed a clearer pattern: although the poorly-controlled group had higher height Z-scores at birth (P=0.001), the well-controlled group showed significantly higher height Z-scores at 3, 6, 12, 15, 18, 24, and 36 months (P<0.05). The well-controlled group exhibited significantly higher mean weight measurements compared to the poorly-controlled group at 3, 6, 9, 15, 18 months and 21 months (P<0.05). From 6 to 36 months, the well-controlled group consistently had significantly higher weight Z-scores than the poorly-controlled group (P<0.05). The well-controlled group showed more favorable height and weight Z-score distributions at 36 months of age compared to the poorly-controlled group, but the differences were not statistically significant (P>0.05). Both groups had height and weight Z-scores within the normal range at 36 months of age. Conclusions The children with phenylketonuria who receive good dietary control show better improvements in growth parameters compared to those with poor dietary control, however, both groups maintain height and weight Z-scores within the normal range, indicating generally adequate physical development across the cohort.