title: Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers.
abstract: 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 microg/L, P<0.001). Even within normal trypsinogen range, the probability of being a CF carrier increases with neonatal IRT concentration.
authors.affiliation: Cystic Fibrosis Centre, Azienda Ospedaliera di Verona, Verona, Italy. carlo.castellani@mail.azosp.vr.it
authors.forename: Carlo
authors.initials: C
authors.lastname: Castellani
authors.forename: Luigi
authors.initials: L
authors.lastname: Picci
authors.forename: Maurizio
authors.initials: M
authors.lastname: Scarpa
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Dechecchi
authors.forename: Luisa
authors.initials: L
authors.lastname: Zanolla
authors.forename: Baroukh Maurice
authors.initials: BM
authors.lastname: Assael
authors.forename: Franco
authors.initials: F
authors.lastname: Zacchello
mesh_terms: D003550:Cystic Fibrosis / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007118:Immunoassay / Q000379:methods; D007231:Infant, Newborn; D007558:Italy / Q000453:epidemiology; D009154:Mutation; D015997:Neonatal Screening; D010186:Pancreatic Function Tests; D014362:Trypsinogen / Q000097:blood* / Q000276:immunology
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen