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Long-term clinical outcomes of neonatal cystic fibrosis presentation: a single-center retrospective study.

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Τίτλος: Long-term clinical outcomes of neonatal cystic fibrosis presentation: a single-center retrospective study.
Συγγραφείς: Freitas E; Pediatric Pulmonology Unit, ULS São José, Hospital Dona Estefânia, Lisbon, Portugal. ema.coelho@ulssjose.min-saude.pt.; Department of Pediatrics, Hospital Dona Estefânia, Lisbon, Portugal. ema.coelho@ulssjose.min-saude.pt., Simão C; Pediatric Pulmonology Unit, ULS São José, Hospital Dona Estefânia, Lisbon, Portugal.; Department of Pediatrics, Hospital Divino Espírito Santo, Ponta Delgada, Portugal., de Bragança RL; Pediatric Pulmonology Unit, ULS São José, Hospital Dona Estefânia, Lisbon, Portugal.; Cystic Fibrosis Reference Center, ULS São José, Hospital Dona Estefânia, Lisbon, Portugal., Castanhinha S; Pediatric Pulmonology Unit, ULS São José, Hospital Dona Estefânia, Lisbon, Portugal.; Cystic Fibrosis Reference Center, ULS São José, Hospital Dona Estefânia, Lisbon, Portugal.
Πηγή: European journal of pediatrics [Eur J Pediatr] 2026 Jul 16; Vol. 185 (8). Date of Electronic Publication: 2026 Jul 16.
Τύπος έκδοσης: Journal Article; Observational Study
Γλώσσα: English
Στοιχεία περιοδικού: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE
Imprint Name(s): Publication: Berlin : Springer Verlag
Original Publication: Berlin, New York, Springer-Verlag.
Ιατρικοί όροι (MeSH): Cystic Fibrosis*/complications , Cystic Fibrosis*/diagnosis , Cystic Fibrosis*/genetics , Cystic Fibrosis*/mortality , Meconium Ileus*/etiology, Exocrine Pancreatic Insufficiency/etiology ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Humans ; Retrospective Studies ; Female ; Male ; Infant, Newborn ; Prognosis ; Portugal ; Adolescent ; Infant ; Neonatal Screening
Περίληψη: Neonatal presentation of cystic fibrosis (CF), particularly meconium ileus, has historically been associated with severe disease and poor prognosis. However, its impact on long-term outcomes in the era of newborn screening and CFTR modulators remains unclear. We aimed to compare long-term clinical outcomes between patients with and without neonatal presentation of CF. We conducted a retrospective observational study including all patients with CF followed at a tertiary reference center in Lisbon, Portugal, between 2013 and March 2025. Neonatal presentation was defined by meconium ileus, neonatal cholestasis, poor weight gain, respiratory symptoms, or exocrine pancreatic insufficiency within the first 28 days of life. Demographic, genetic, nutritional, pulmonary, and clinical outcome data were analyzed. Among 61 patients with CF, 16 (26.2%) had neonatal presentation, predominantly meconium ileus. This group was more frequently F508del homozygous than the non-neonatal group (75.0% vs. 37.8%, p = 0.019). Nutritional outcomes were comparable between groups, with overlapping BMI z-score trajectories across follow-up. Lung function in patients with neonatal presentation showed a trend toward greater decline in FEV₁ during adolescence. Patients without neonatal presentation exhibited a higher burden and broader spectrum of chronic complications. Mortality was low in both groups.
Conclusion: Neonatal presentation in CF no longer confers a uniformly adverse long-term prognosis under contemporary care. Although associated with significant early disease burden, nutritional outcomes and survival remain preserved. However, the observed trend toward greater pulmonary decline during adolescence suggests persistent respiratory vulnerability requiring long-term surveillance.
What Is Known: • Neonatal CF presentation (e.g., meconium ileus) has historically been associated with severe disease and poor prognosis. • Newborn screening and CFTR modulators have substantially improved CF outcomes.
What Is New: • Despite significant early morbidity, neonatal CF presentation was associated with preserved nutritional outcomes and survival, but a trend toward greater pulmonary decline in adolescence. • Neonatal presentation may represent a risk-modifying rather than deterministic phenotype in the modern CF era.
(© 2026. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Competing Interests: Declarations. Ethics approval: This retrospective observational study was conducted in accordance with the Declaration of Helsinki. Ethics committee review was requested from the Ethics Committee of ULS São José and was pending at the time of manuscript submission. Competing interests: The authors declare no competing interests.
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Contributed Indexing: Keywords: CFTR modulators; Cystic fibrosis; Long-term outcomes; Meconium ileus; Neonatal presentation
Substance Nomenclature: 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator)
Entry Date(s): Date Created: 20260716 Date Completed: 20260716 Latest Revision: 20260716
Update Code: 20260717
DOI: 10.1007/s00431-026-07247-0
PMID: 42461336
Βάση Δεδομένων: MEDLINE
Περιγραφή
ISSN:1432-1076
DOI:10.1007/s00431-026-07247-0