Childhood Interstitial Lung Disease in Metabolic Disorders: Prevalence, Genotypic and Clinical Characteristics, and Management Approaches: An Analysis of the Child‐Turkey Registry

Key Points

• This research aims to explore the prevalence and characteristics of childhood interstitial lung disease (chILD) within metabolic disorders and evaluate management strategies.
• Analysis of data from the Child‐Turkey Registry.
• Assessments of genotypic and clinical features of patients with chILD.
• Evaluation of management approaches, including early enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).
• Delayed diagnosis is common due to the insidious progression of chILD.
• Supportive management is prevalent, but ERT may improve or stabilize lung function for some patients.
• Further studies are necessary to understand the long-term effects of ERT and SRT on pulmonary outcomes.