Clinical and Experimental Pediatrics

Original Article

Pulmonology

Telomere biology disorders associated with childhood interstitial lung disease

Maria Greiner-Mai, Christina Katharina Rapp, Katrin Knoflach, Daniel Gräfe, Franz Wolfgang Hirsch, Julia Ley-Zaporozhan, Simone Reu-Hofer, Julia Hentschel, Stefan Zielen, Monika Helena Tedy, Heymut Omran, Ernst Rietschel, Tuğba Sismanlar Eyuboglu, Ayse Tana-Aslan, Nagehan Emiralioglu, Nicola Ullmann, Samuele Naviglio, Massimo Maschio, Fabian Beier, Tuğba Ramaslı Gürsoy, Matthias Griese, Freerk Prenzel

Clin Exp Pediatr. 2026;69(7):593-603. Published online June 18, 2026

Question: What are the pulmonary manifestations and clinical characteristics of telomere biology disorders in children with interstitial lung disease?
Finding: Telomere biology disorders are an important but often underrecognized cause of childhood interstitial lung disease and are associated with variable pulmonary, radiologic, and histopathologic findings, frequent multisystem involvement, and often severe disease progression.
Meaning: Early genetic testing and multidisciplinary evaluation are essential for timely diagnosis, optimized management, and improved outcomes in affected children.

DOI: https://doi.org/10.3345/cep.2026.00290

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