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Sweat chloride and immunoreactive trypsinogen in infants carrying two CFTR mutations and not affected by cystic fibrosis
  1. Carlo Castellani1,
  2. Gloria Tridello1,
  3. Anna Tamanini2,
  4. Baroukh M Assael1
  1. 1 Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy
  2. 2 Clinical Chemistry and Hematology Laboratory, Azienda Ospedaliera Universitaria Integrata, Verona, Italy
  1. Correspondence to Dr Carlo Castellani, Cystic Fibrosis Center; Azienda Ospedaliera Universitaria Integrata, Piazzale Stefani 1, Verona 37126, Italy; carlo.castellani{at}ospedaleuniverona.it

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).

  • Cystic Fibrosis
  • Screening

https://doi.org/10.1136/archdischild-2015-309348

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