Neonatal respiratory distress beyond common causes: surfactant dysfunction disorders and other etiologies of childhood interstitial lung disease.

Authors

Ayyüce Ünlü, Işıl Bilgiç, Meltem Kürtül Çakar, Gamze Akca Dinç, Hande Yetişgin, Çelebi Yıldırım, Sanem Eryılmaz Polat, Dilber Ademhan Tural, Gökçen Dilşa Tuğcu, Esra Karakuş, Güzin Cinel

Published in

Frontiers in pediatrics. Volume 14. Pages 1940912. Epub Oct 09, 2026.

Abstract

Neonatal interstitial lung disease (ILD) encompasses a heterogeneous group of rare disorders, among which surfactant dysfunction disorders represent a clinically distinct and severe subgroup. Diagnosis is challenging because presentation frequently overlaps with common neonatal respiratory conditions, and classification in neonates remains particularly difficult.
To describe the clinical characteristics, genetic spectrum, and outcomes of neonatal-onset childhood interstitial lung disease (chILD), with a focus on etiology-related differences in clinical presentation between surfactant dysfunction disorders and other chILD subtypes.
This retrospective study included 14 patients with neonatal-onset chILD diagnosed between 2019 and 2025. Patients underwent a standardized evaluation protocol and were stratified by surfactant dysfunction mutation status to explore etiology-related differences in clinical presentation and outcome.
Fourteen patients were included (50% male; 42.9% consanguineous; 50% premature). Pathogenic or likely pathogenic variants were identified in 7/14 patients (50%), most commonly in ABCA3 (21.4%) and NKX2-1 (14.3%). Patients with surfactant dysfunction mutations presented earlier (symptom onset <24 h in 100% vs. 77.8%) and required higher peak oxygen support (median FiO₂ 100% vs. 55%), whereas those with other etiologies had a longer but less fatal course. Pulmonary hypertension was present in 42.9%. Mortality was 21.4% after a median follow-up of 36 months.
In this small cohort, surfactant dysfunction disorders showed numerically earlier symptom onset, higher oxygen requirements, and higher mortality compared with other etiologies, although between-group differences did not reach statistical significance. Repeated surfactant requirements or failure to wean from respiratory support should prompt early systematic clinical, radiological, and genetic evaluation, particularly in preterm infants, in whom diagnostic delay may occur due to clinical overlap with respiratory distress syndrome.

PMID:
42920617
Bibliographic data and abstract were imported from PubMed on 24 Oct 2026.

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