Interstitial lung disease in children - genetic background and associated phenotypes

Interstitial lung disease in children represents a group of rare
chronic respiratory disorders. There is growing evidence that
mutations in the surfactant protein C gene play a role in the
pathogenesis of certain forms of pediatric interstitial lung
disease. Recently, mutations in the ABCA3 transporter were found as
an underlying cause of fatal respiratory failure in neonates
without surfactant protein B deficiency. Especially in familiar
cases or in children of consanguineous parents, genetic diagnosis
provides an useful tool to identify the underlying etiology of
interstitial lung disease. The aim of this review is to summarize
and to describe in detail the clinical features of hereditary
interstitial lung disease in children. The knowledge of gene
variants and associated phenotypes is crucial to identify relevant
patients in clinical practice.