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接受治疗的经典型半乳糖血症患者的生长情况。

Growth in treated classical galactosemia patients.

作者信息

Panis Bianca, Gerver Willem-Jan M, Rubio-Gozalbo M Estela

机构信息

Department of Pediatrics, University Hospital Maastricht, 6202 AZ, Maastricht, The Netherlands.

出版信息

Eur J Pediatr. 2007 May;166(5):443-6. doi: 10.1007/s00431-006-0255-4. Epub 2006 Sep 22.

DOI:10.1007/s00431-006-0255-4
PMID:17024348
Abstract

Decreased height and weight in treated children with classical galactosemia have been reported. However, growth has not been extensively studied. Patients might be at risk for an abnormal growth because of either disease-related intrinsic factors or diet-related factors. The objective was to gain insight in growth in treated children and adolescents with classical galactosemia. The studied population was a previously reported group of 40 classical galactosemia children. Prenatal growth was evaluated using length, weight and head circumference (HC) data from welfare centers or parents. Postnatal growth was evaluated using three height and weight measurements at baseline, 1 and 2 years to calculate growth velocities. Height Z-score was also corrected for target height Z-score (height Z-score divided by target height Z-score). Linear regression analysis was performed between growth velocities, IGF-I, IGFBP-3, dietary intake and galactose-1-phosphate-uridyltransferase activity. We found normal length (median 50.5 cm), weight (median 3,255 grams) and HC (median 33.9 cm) at birth. Mean height growth velocity was 0.87+/-1.2 for boys and -0.89+/-2.1 for girls, and mean weight growth velocity was 0.91+/-1.6 for boys and -0.74+/-1.3 for girls. Mean height corrected for target height was -1.5+/-0.9 in girls and -0.6+/-0.7 in boys. Height growth velocity was correlated with IGF-I (Pearson correlation= 0.499), IGFBP-3 (Pearson correlation 0.4) and height Z-scores corrected for target height Z-scores (Pearson correlation=0.550). Five children grew beyond the age of 18 years. In conclusion, prenatal growth was normal but postnatal growth was affected. Predicted final height is less than target height in most patients; however, target height might be reached for the children who grow beyond the age of 18. Decreased IGF-I and IGFBP-3 and or suboptimal hormonal replacement in girls might play a role.

摘要

据报道,接受治疗的经典型半乳糖血症患儿身高和体重有所下降。然而,生长情况尚未得到广泛研究。由于疾病相关的内在因素或饮食相关因素,患者可能存在生长异常的风险。目的是深入了解接受治疗的经典型半乳糖血症儿童和青少年的生长情况。研究人群是之前报道的一组40名经典型半乳糖血症儿童。产前生长情况通过福利中心或家长提供的身长、体重和头围(HC)数据进行评估。产后生长情况通过在基线、1年和2年时进行的三次身高和体重测量来计算生长速度进行评估。身高Z评分也根据目标身高Z评分进行校正(身高Z评分除以目标身高Z评分)。对生长速度、胰岛素样生长因子-I(IGF-I)、胰岛素样生长因子结合蛋白-3(IGFBP-3)、饮食摄入量和1-磷酸半乳糖尿苷转移酶活性进行线性回归分析。我们发现出生时身长正常(中位数50.5厘米)、体重正常(中位数3255克)和头围正常(中位数33.9厘米)。男孩的平均身高生长速度为0.87±1.2,女孩为-0.89±2.1,男孩的平均体重生长速度为0.91±1.6,女孩为-0.74±1.3。根据目标身高校正后的平均身高,女孩为-1.5±0.9,男孩为-0.6±0.7。身高生长速度与IGF-I(Pearson相关性=0.499)、IGFBP-3(Pearson相关性0.4)以及根据目标身高Z评分校正后的身高Z评分(Pearson相关性=0.550)相关。5名儿童成长至18岁以上。总之,产前生长正常,但产后生长受到影响。大多数患者预测的最终身高低于目标身高;然而,对于成长至18岁以上的儿童可能会达到目标身高。女孩中IGF-I和IGFBP-3降低以及激素替代不理想可能起到了一定作用。

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本文引用的文献

1
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2
The IGF system in childhood: physiology and clinical implications.儿童期的胰岛素样生长因子系统:生理学及临床意义
J Endocrinol Invest. 2005;28(5 Suppl):38-42.
3
Bone metabolism in galactosemia.半乳糖血症中的骨代谢
成年遗传性代谢疾病患者的激素功能障碍。
J Mother Child. 2020 Nov 10;24(2):21-31. doi: 10.34763/jmotherandchild.20202402si.2018.000005.
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A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.经典半乳糖血症的半乳糖-1-磷酸尿苷酰转移酶缺失大鼠模型模拟了相关的患者结局,并揭示了半乳糖代谢在组织特异性和纵向方面的差异。
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Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.新型基于 mRNA 的疗法可降低经典半乳糖血症小鼠模型中的毒性半乳糖代谢物并克服对半乳糖的敏感性。
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