Details

Autor(en) / Beteiligte

• Sarles, J
• Barthellemy, S
• Férec, C
• Iovanna, J
• Roussey, M
• Farriaux, J P
• Toutain, A
• Berthelot, J
• Maurin, N
• Codet, J P
• Berthézène, P
• Dagorn, J C

Titel

Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis

Ist Teil von

• Archives of disease in childhood. Fetal and neonatal edition, 1999-03, Vol.80 (2), p.F118-F122

Ort / Verlag

England

Erscheinungsjahr

1999

Quelle

MEDLINE

Beschreibungen/Notizen

• To determine whether pancreatitis associated protein (PAP) is a marker for cystic fibrosis which could be used in neonatal screening for the disease. 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. 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. PAP is increased in most neonates with cystic fibrosis and could be used for CF screening. Its combination with IRT looks promising.