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性别、胎龄、出生体重、输血以及足跟采血时间对囊性纤维化新生儿筛查中胰腺炎相关蛋白浓度的影响。

The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis.

机构信息

Department of Research and Innovation, Atrium Medical Center, PO box 4446, 6401 CX Heerlen, The Netherlands. amm.vernooij+

出版信息

J Inherit Metab Dis. 2013 Jan;36(1):147-54. doi: 10.1007/s10545-012-9498-6. Epub 2012 Jun 28.

DOI:10.1007/s10545-012-9498-6
PMID:22739940
Abstract

BACKGROUND

Pancreatitis-associated protein (PAP) is currently discussed as a marker in newborn screening (NBS) for cystic fibrosis (CF). However, it is not known if PAP concentrations are influenced by sex, gestational age, birth weight, blood transfusion or time of collection and what this would mean for NBS for CF.

METHODS

In 2008 all newborns in part of the Netherlands were screened for CF by an IRT/PAP protocol. PAP concentration was determined by the MucoPAP ELISA (DynaBio), which was modified to a Dissociation Enhanced Lanthanide Fluoroimmunoassay (DELFIA) method following a protocol of PerkinElmer.

RESULTS

In healthy newborns, the median PAP concentration was 0.5 μg/l (Interquartile range (IQR 0.3-0.8) whereas this was 3.2 μg/l (IQR 2.0-12.5) in CF infants. PAP concentrations were lower in premature infants 0.94 and 0.91 times for 25 to 31 + 6 weeks GA and 32 to 36 + 6 weeks respectively. A higher PAP concentration was observed in low-birth-weight infants (<2500 gram)(p = 0.001), per 100 gram birth weight gained the PAP concentration decreased with 0.1 %. PAP levels were higher after a blood transfusion, the 95th percentile increased from 1.3 to 3.6 μg/l leading to a higher false-positive rate. The PAP concentration increased when newborn screening was performed more than 168 hours (day 7) after birth (β = 1.63), the 95th percentile increased from 1.3-1.6 μg/l to 4.0 μg/l after 168 hours (72,874 newborns were screened).

CONCLUSION

Sex, birth weight, and gestational age lead to small differences in PAP concentrations without consequences for the screening algorithm. However, blood transfusion as well as performance of the heel prick after 168 hours (7 days) lead to clinically significant higher PAP levels and to a higher risk on a false-positive screening test result.

摘要

背景

胰腺炎相关蛋白(PAP)目前被认为是新生儿筛查(NBS)中囊性纤维化(CF)的一个标志物。然而,目前尚不清楚 PAP 浓度是否受性别、胎龄、出生体重、输血或采集时间的影响,如果是这样,这将对 CF 的 NBS 意味着什么。

方法

2008 年,荷兰部分地区的所有新生儿均采用 IRT/PAP 方案进行 CF 筛查。PAP 浓度通过 MucoPAP ELISA(DynaBio)测定,该方法经过 PerkinElmer 的方案修改为解离增强镧系荧光免疫测定(DELFIA)方法。

结果

在健康的新生儿中,PAP 浓度的中位数为 0.5μg/l(四分位距(IQR)0.3-0.8),而 CF 患儿的 PAP 浓度为 3.2μg/l(IQR 2.0-12.5)。早产儿的 PAP 浓度较低,胎龄 25 至 31+6 周和 32 至 36+6 周时分别为 0.94 和 0.91 倍。出生体重较低的婴儿(<2500 克)的 PAP 浓度较高(p=0.001),每增加 100 克体重,PAP 浓度就会降低 0.1%。输血后 PAP 水平升高,第 95 个百分位数从 1.3μg/l 增加到 3.6μg/l,导致假阳性率升高。与出生后 168 小时(第 7 天)后进行新生儿筛查相比,PAP 浓度增加(β=1.63),第 95 个百分位数从 1.3-1.6μg/l 增加到 4.0μg/l,之后 168 小时(共筛查了 72874 名新生儿)。

结论

性别、出生体重和胎龄导致 PAP 浓度略有差异,但对筛查算法没有影响。然而,输血以及在 168 小时(7 天)后进行足跟采血会导致临床意义上更高的 PAP 水平,以及假阳性筛查结果的风险更高。

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奥地利使用胰蛋白酶原激活肽(PAP)以及PAP与免疫反应性胰蛋白酶(IRT)浓度的数值乘积作为二级参数进行囊性纤维化新生儿筛查。
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