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Turkish Journal of Medical Sciences

Abstract

Background/aim: Childhood interstitial lung diseases (chILD) constitute a rare and clinically complex group of disorders. This study aimed to characterize the clinical, radiological, and genetic features, as well as the outcomes, of chILD in a Turkish cohort classified according to the chILD-EU framework.

Materials and methods: We retrospectively reviewed the medical records of 84 pediatric patients diagnosed with chILD between 2017 and 2024 at a tertiary referral center in Türkiye. Patients were categorized according to the chILD-EU classification. Clinical variables, imaging findings, genetic analyses, pulmonary function test results, and Fan severity scores were systematically assessed. Logistic regression analysis was performed to identify independent predictors of clinical instability.

Results: The median age at diagnosis was 6.0 years (IQR: 1.1–12.9). Surfactant dysfunction disorders (A4) and immune- or environmental-related diseases (B2) were the most frequently identified subtypes. Hypoxia was observed in 36 of 84 patients (42.8%) and emerged as the strongest independent predictor of clinical instability (OR: 8.5; 95% CI: 2.2–33.0; p = 0.002). Pathogenic or likely pathogenic variants were identified in 18 of 84 patients (21.4%); among variant-positive cases, ABCA3 was the most frequently affected gene (3 of 18; 16.7%). Chest computed tomography was available in 82 of 84 patients, with ground-glass opacities being the most common finding, observed in 51 of 82 patients (62.2%). A decrease of at least one point in the Fan severity score was observed in 42 of 84 patients (p < 0.001). Mortality was 12 of 84 patients (14.3%) after a median follow-up of 3.2 years (range: 1.2–4).

Conclusion: This study presents one of the largest single-center pediatric chILD cohorts reported from Türkiye. It highlights the prognostic relevance of baseline hypoxia and underscores the importance of comprehensive radiological and genetic assessment in the management of chILD.

Author ORCID Identifier

AYYÜCE ÜNLÜ: 0000-0003-3829-1918

ŞULE AKYAN SOYDAŞ: 0000-0002-9224-5237

SATI TABAKÇI: 0000-0002-7009-4917

IŞIL BİLGİÇ: 0000-0001-9598-5989

MELTEM ÇAKAR: 0000-0002-1466-2369

GAMZE DİNÇ: 0000-0002-3897-5650

HANDE YETİŞGİN: 0000-0003-1316-9545

ÇELEBİ YILDIRIM: 0000-0001-9858-454X

GÖKÇEN TUĞCU: 0000-0002-9804-1200

DİLBER ADEMHAN TURAL: 0000-0002-0334-6336

SANEM ERYILMAZ POLAT: 0000-0003-2309-7952

GÜZİN CİNEL: 0000-0002-6209-196X

DOI

10.55730/1300-0144.6153

Keywords

childhood, hypoxia, Interstitial lung diseases, outcome

First Page

195

Last Page

207

Publisher

The Scientific and Technological Research Council of Türkiye (TÜBİTAK)

Creative Commons License

Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

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