Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis.
| Autor: | Sarles J; INSERM U.315 Marseille, France., Barthellemy S, Férec C, Iovanna J, Roussey M, Farriaux JP, Toutain A, Berthelot J, Maurin N, Codet JP, Berthézène P, Dagorn JC |
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| Jazyk: | angličtina |
| Zdroj: | Archives of disease in childhood. Fetal and neonatal edition [Arch Dis Child Fetal Neonatal Ed] 1999 Mar; Vol. 80 (2), pp. F118-22. |
| DOI: | 10.1136/fn.80.2.f118 |
| Abstrakt: | Aim: To determine whether pancreatitis associated protein (PAP) is a marker for cystic fibrosis which could be used in neonatal screening for the disease. Methods: PAP was assayed on screening cards from 202,807 neonates. Babies with PAP > or = 15 ng/ml, or > or = 11.5 ng/ml and immunoreactive trypsinogen (IRT) > or = 700 ng/ml were recalled for clinical examination, sweat testing, and cystic fibrosis transmembrane regulator (CFTR) gene analysis. Results: Median PAP value was 2.8 ng/ml. Forty four cases of cystic fibrosis were recorded. Recalled neonates (n = 398) included only 11 carriers. A receiver operating characteristic curve analysis showed that PAP above 8.0 ng/ml would select 0.76% of babies, including all those with cystic fibrosis, except for one with meconium ileus and two with mild CFTR mutations. Screening 27,146 babies with both PAP and IRT showed that only 0.12% had PAP > 8.0 ng/ml and IRT > 700 ng/ml, including all cases of cystic fibrosis. Conclusion: PAP is increased in most neonates with cystic fibrosis and could be used for CF screening. Its combination with IRT looks promising. |
| Databáze: | MEDLINE |
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