Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis.
BMC Pediatr
; 19(1): 369, 2019 10 22.
Article
em En
| MEDLINE
| ID: mdl-31640630
ABSTRACT
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/CFSPIDâCF and CRMS/CFSPIDâCRMS/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/CFSPIDâCF), while the diagnosis remained uncertain (CRMS/CFSPIDâ 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/CFSPIDâCF (n = 14) had significantly higher NBS IRT concentrations (ng/ml) than CRMS/CFSPIDâ 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/CFSPIDâCF than CRMS/CFSPIDâ 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.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Tripsinogênio
/
Triagem Neonatal
/
Fibrose Cística
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article