title: Sweat chloride and immunoreactive trypsinogen in infants carrying twoCFTRmutations and not affected by cystic fibrosis.
abstract: Newborns with raised immunotrypsinogen levels who have non-pathological sweat chloride values and carry two cystic fibrosis transmembrane regulator (CFTR) mutations of which at least one is not acknowledged to be cystic fibrosis (CF)-causing are at risk of developing clinical manifestations consistent with CFTR-related disorders or even CF. It is not known whether newborns with similar genotypes and normal immunoreactive trypsinogen (IRT) may share the same risk. This study found that newborns with these characteristics and normal IRT have lower sweat chloride values than those with raised IRT (p=0.007).
authors.affiliation: Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Castellani
authors.affiliation: Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
authors.forename: Gloria
authors.initials: G
authors.lastname: Tridello
authors.affiliation: Clinical Chemistry and Hematology Laboratory, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Tamanini
authors.affiliation: Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
authors.forename: Baroukh M
authors.initials: BM
authors.lastname: Assael
mesh_terms: D002648:Child; D002675:Child, Preschool; D002712:Chlorides / Q000378:metabolism*; D003550:Cystic Fibrosis / Q000201:enzymology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics*; D013542:Sweat / Q000737:chemistry*; D014362:Trypsinogen / Q000378:metabolism*
chemical_list: C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen
keywords: Cystic Fibrosis; Screening