Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis

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dc.contributor.authorOoi, Chee Y
dc.contributor.authorSutherland, Rosie
dc.contributor.authorCastellani, Carlo
dc.contributor.authorKeenan, Katherine
dc.contributor.authorBoland, Margaret
dc.contributor.authorReisman, Joe
dc.contributor.authorBjornson, Candice
dc.contributor.authorChilvers, Mark A
dc.contributor.authorvan Wylick, Richard
dc.contributor.authorKent, Steven
dc.contributor.authorPrice, April
dc.contributor.authorMateos-Corral, Dimas
dc.contributor.authorHughes, Daniel
dc.contributor.authorSolomon, Melinda
dc.contributor.authorZuberbuhler, Peter
dc.contributor.authorBrusky, Janna
dc.contributor.authorDurie, Peter R
dc.contributor.authorRatjen, Felix
dc.contributor.authorGonska, Tanja
dc.date.accessioned2019-10-27T00:16:13Z
dc.date.available2019-10-27T00:16:13Z
dc.date.issued2019-10-22
dc.date.updated2019-10-27T00:16:13Z
dc.description.abstractAbstract Background Newborn screening (NBS) for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain diagnosis of cystic fibrosis (CF), i.e. CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS) or CF screen positive inconclusive diagnosis (CFSPID). These infants have an uncertain long-term outcome and it is currently unclear around time of diagnosis, which infants are at higher risk of later fulfilling a CF diagnosis. In this study, we hypothesised that immunoreactive trypsinogen (IRT) levels, used in NBS as a marker of pancreatic disease and function, may reflect the degree of CFTR dysfunction in each individual and therefore would help to identify those with CRMS/CSPID who are later at risk for meeting the criteria of CF. Methods In this longitudinal, prospective study, infants with CRMS/CFSPID and CF were recruited and followed in 9 CF clinics (Canada and Italy). We compared NBS IRT levels between CF and CRMS/CFSPID, and between children with CRMS/CFSPID→CF and CRMS/CFSPID→CRMS/CFSPID during the period of June 2007 to April 2016. Results Ninety eight CRMS/CFSPID and 120 CF subjects were enrolled. During the study period, 14 (14.3%) CRMS/CFSPID subjects fulfilled the diagnostic criteria for CF (CRMS/CFSPID→CF), while the diagnosis remained uncertain (CRMS/CFSPID→ CRMS/CFSPID) in 84 (85.7%) subjects. Significantly higher NBS IRT concentrations (ng/ml) were present in CF than CRMS/CFPSID (median (interquartile range): 143.8 (99.8–206.2) vs. 75.0 (61.0–105.9); P < 0.0001). Infants with CRMS/CFSPID→CF (n = 14) had significantly higher NBS IRT concentrations (ng/ml) than CRMS/CFSPID→ CRMS/CFSPID (n = 83) (median (interquartile range): 108.9 (72.3–126.8) vs. 73.7(60.0–96.0); P = 0.02). Conclusions Amongst infants who tested positive on NBS for CF, there is a gradation of elevated NBS IRT concentrations. Infants with CF have higher NBS IRT levels than CRMS/CFPSID, and higher NBS IRT concentrations were present in infants with CRMS/CFSPID→CF than CRMS/CFSPID→ CRMS/CFSPID. NBS IRT concentrations, in concert with other factors, may have the potential to predict the likelihood of CF amongst infants with CRMS/CFSPID.
dc.identifier.citationBMC Pediatrics. 2019 Oct 22;19(1):369
dc.identifier.doihttps://doi.org/10.1186/s12887-019-1756-4
dc.identifier.urihttp://hdl.handle.net/1880/111176
dc.language.rfc3066en
dc.rights.holderThe Author(s).
dc.titleImmunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis
dc.typeJournal Article
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