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早期接受治疗的苯丙酮尿症患者生命最初五年期间平均苯丙氨酸水平的预测因素。荷兰国家苯丙酮尿症指导委员会。

Predictors of mean phenylalanine levels during the first five years of life in patients with phenylketonuria who were treated early. Dutch National PKU Steering Committee.

作者信息

Verkerk P H, van Spronsen F J, van Houten M, Smit G P, Sengers R C

机构信息

TNO Prevention and Health, Leiden, The Netherlands.

出版信息

Acta Paediatr Suppl. 1994 Dec;407:70-2. doi: 10.1111/j.1651-2227.1994.tb13456.x.

DOI:10.1111/j.1651-2227.1994.tb13456.x
PMID:7766963
Abstract

We studied the relationship between plasma phenylalanine level at first diagnostic visit, country of origin of the mother, birth cohort, child clinic, sex, and social class on the one hand and mean plasma phenylalanine levels in the first five years of life on the other hand in patients with phenylketonuria (PKU) who were treated early. The study population consisted of 131 early treated patients with PKU born during the period from September 1st, 1974 to December 31st, 1988 in The Netherlands. Plasma phenylalanine levels from first diagnostic visit (usually before the age of three weeks) up until the fifth birthday were registered. For each patient the mean phenylalanine level during that period was calculated. Our results suggest that 1) it is more difficult to maintain low phenylalanine levels in patients with a more severe form of PKU, 2) in recent years paediatricians have treated their patients with a stricter diet, 3) there are differences in perception between paediatricians of different clinics as to what levels are acceptable, and 4) treatment of patients from non-Dutch mothers is more difficult than treatment of patients with Dutch mothers.

摘要

我们研究了苯丙酮尿症(PKU)早期治疗患者首次诊断就诊时的血浆苯丙氨酸水平、母亲的原籍国、出生队列、儿童诊所、性别和社会阶层与生命最初五年的平均血浆苯丙氨酸水平之间的关系。研究人群包括1974年9月1日至1988年12月31日期间在荷兰出生的131例早期接受治疗的PKU患者。记录了从首次诊断就诊(通常在三周龄之前)到五岁生日期间的血浆苯丙氨酸水平。计算了每位患者在此期间的平均苯丙氨酸水平。我们的结果表明:1)PKU病情较重的患者更难维持低苯丙氨酸水平;2)近年来,儿科医生对患者采用了更严格的饮食治疗;3)不同诊所的儿科医生对于可接受的水平存在认知差异;4)对非荷兰籍母亲的患者进行治疗比对荷兰籍母亲的患者更困难。

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Predictors of mean phenylalanine levels during the first five years of life in patients with phenylketonuria who were treated early. Dutch National PKU Steering Committee.早期接受治疗的苯丙酮尿症患者生命最初五年期间平均苯丙氨酸水平的预测因素。荷兰国家苯丙酮尿症指导委员会。
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J Inherit Metab Dis. 2000 Sep;23(6):548-62. doi: 10.1023/a:1005669610722.