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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. |