Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers

被引：30

作者：

Castellani, C

Picci, L

Scarpa, M

Dechecchi, MC

Zanolla, L

Assael, BM

Zacchello, F

机构：

[1] Osped Civile, Cyst Fibrosis Ctr, Azienda Osped Verona, I-37126 Verona, Italy

[2] Univ Padua, Dept Pediat, Padua, Italy

[3] Univ Verona, Dept Cardiol, Verona, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2005年 / 135A卷 / 02期

关键词：

immunoreactive trypsinogen; neonatal; screening; CF heterozygotes;

D O I：

10.1002/ajmg.a.30470

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Following cystic fibrosis (CF) neonatal screening implementation, a high frequency of heterozygotes has been reported among neonates with elevated immunoreactive trypsinogen (IRT) and normal sweat chloride levels. We studied the relationship between normal IRT values and CF heterozygosity: 10,000 neonates were screened for CF by IRT measurement and tested for 40 CF mutations; the 294 carriers detected were coupled with newborns negative to the same genetic testing, and the two groups' IRT levels compared. Heterozygotes had higher IRT levels than their controls (mean 35.32 vs. 27.58 mu g/L, P < 0.001). Even within normal trypsinogen range, the probability of being a CF carrier increases with neonatal IRT concentration. (c) 2005 Wiley-Liss, Inc.

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页码：142 / 144

页数：3

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