Immunoreactive trypsinogen in healthy newborns and infants with cystic fibrosis
Rattachement africain : ch, no. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
OBJECTIVE: Newborn screening (NBS) for cystic fibrosis (CF) was introduced in Switzerland in 2011 based on an immunoreactive trypsinogen (IRT)-DNA-IRT protocol. CF diagnosis was confirmed by sweat test and/or genetics but remained inconclusive for some newborns (cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS)/CF screen positive, inconclusive diagnosis (CFSPID)). We aimed to (1) Describe IRT levels in healthy newborns in the first year of life and by gestational age (GA), and (2) Compare IRT at two time points between healthy newborns and newborns with CF and CRMS/CFSPID. DESIGN: Retrospective study. SETTING: National NBS database. PATIENTS: All children with an IRT measurement by heel prick test from 2011 to 2019. INTERVENTIONS: None. MAIN OUTCOME MEASURES: IRT values were extracted from the National NBS Laboratory, and clinical characteristics of positively screened children from the CF-NBS database. Second IRT assessment in positively screened children was usually performed after 18-24 days. We calculated internal IRT Z-Scores and multiples of the median to compare our results across different laboratory tools. RESULTS: Among 815 899 children; 232 were diagnosed with CF, of whom 36 had meconium ileus (MI); 27 had CRMS/CFSPID. Among all samples analysed, mean IRT Z-Scores were higher for newborns with GA <33 weeks and ≥43 weeks (all Z-Scores >0.11) compared with term babies (all Z-Scores ≤0.06). Repeated IRT Z-Scores after a median (IQR) of 19 (17-22) days remained high for infants with CF with or without MI but decreased for infants with CRMS/CFSPID. CONCLUSIONS: Measurement of a second IRT value can help distinguish between children with CRMS/CFSPID and CF, early in life.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Immunoreactive trypsinogen in healthy newborns and infants with cystic fibrosis
- Date Crossref
- 08/09/2022
- Éditeur
- BMJ
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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University Children's Hospital Zurich Swiss Newborn Screening Laboratory pays non établi dans la noticeÉtablissement de santé
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Oslo University Hospital Oslo Centre for Biostatistics and Epidemiology pays non établi dans la noticeÉtablissement de santé
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Ostschweizer Kinderspital pays non établi dans la noticeÉtablissement de santé
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University of Bern Institute of Social and Preventive Medicine pays non établi dans la noticeUniversité ou école supérieure
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Institute of Social and Preventive Medicine pays non établi dans la noticeStructure de recherche
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University Children’s Hospital Bern pays non établi dans la noticeÉtablissement de santé
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University Hospital of Bern pays non établi dans la noticeÉtablissement de santé
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Luzerner Kantonsspital pays non établi dans la noticeÉtablissement de santé
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Division of Pediatric Pulmonology pays non établi dans la noticeInstitution
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Inselspital University Hospital Bern Children's Hospital pays non établi dans la noticeUniversité ou école supérieure
Swiss Newborn Screening Laboratory — University Children's Hospital Zurich, Oslo Centre for Biostatistics and Epidemiology — Oslo University Hospital et Ostschweizer Kinderspital, avec 7 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.