Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis
| Autor: | Melinda Solomon, Peter R. Durie, Mark A. Chilvers, Richard van Wylick, Steven Kent, Margaret Boland, Katherine Keenan, Tanja Gonska, Dimas Mateos-Corral, Janna Brusky, Peter Zuberbuhler, Rosie Sutherland, Candice Bjornson, Chee Y. Ooi, Daniel Hughes, Felix Ratjen, April Price, Carlo Castellani, Joe Reisman |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Newborn screening
medicine.medical_specialty Pancreatic disease Cystic Fibrosis Cystic fibrosis Gastroenterology Pediatrics 03 medical and health sciences 0302 clinical medicine Neonatal Screening Interquartile range 030225 pediatrics Internal medicine Medicine Humans Immunoreactive trypsinogen Longitudinal Studies Prospective Studies Prospective cohort study CFTR-related metabolic syndrome (CRMS) Sweat test medicine.diagnostic_test business.industry fungi Infant Newborn lcsh:RJ1-570 lcsh:Pediatrics medicine.disease CF screen positive inconclusive diagnosis (CFSPID) Trypsinogen 030228 respiratory system Pediatrics Perinatology and Child Health embryonic structures Metabolic syndrome business Research Article |
| Zdroj: | BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019) BMC Pediatrics Paediatrics Publications |
| ISSN: | 1471-2431 |
| Popis: | 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 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. |
| Databáze: | OpenAIRE |
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