Chronic interstitial lung diseases in children: diagnosis approaches

Abstract

Introduction: Children interstitial lung disease (chILD) is a heterogeneous group of rare respiratory disorders characterized by inflammatory and fibrotic changes of the lung parenchyma. They include ILD related to exposure/environment insults, ILD related to systemic diseases processes, ILD related to primary lung parenchyma dysfunctions and ILD specific to infancy. Areas covered: This review provides an update on chILD pathophysiology and diagnosis approaches in immunocompetent children. It includes current information on genetic causes. Expert commentary: ChILD covers a large spectrum of entities with heterogeneous disease expression. Various classifications have been reported, but none of them seems completely satisfactory. Recently, progress in molecular genetics has allowed identifying some genetic contributors, with, so far, a lack of correlations between gene disorders and disease expression. Despite improvements in patient management, chILD prognosis is still burdened by significant morbidity and mortality. Ongoing international collaborations will allow gathering larger longitudinal cohorts of patients to improve disease knowledge and personalized care. The overall goal is to help the children with ILD to reach the adulthood transition in a better condition, and to structure genetic counseling for their family.

Keywords: Pediatric interstitial lung disease; chILD; classification; diagnosis approach; genetics; surfactant.