Abstract
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.
Highlights
In children, Interstitial lung disease (ILD) is less frequent and comprises a broader spectrum of disorders with a more variable clinical course compared to adults
Mutations in the SP-C gene and in the ATP-binding cassette protein A3 (ABCA3) gene were found to be associated with pediatric ILD [15,16,17]
While children with SP-C mutations showed mostly non-specific interstitial pneumonitis (NSIP) except of two cases with combined pulmonary alveolar proteinosis (PAP), adults with SP-C mutations suffered from usual interstitial pneumonitis (UIP) or desquamative interstitial pneumonitis (DIP) or remained asymptomatic
Summary
Surfactant protein B The lethal lung disease in SP-B deficient mice and humans demonstrates the crucial role for SP-B in neonatal lung function. Affected individuals may carry a genetic risk for interstitial lung disease, which becomes apparent in dependence of the genetic background, i.e. modifier genes and environmental influences These findings have essential implicationsfor the diagnosis of ILD in children as genetic diagnoses can be made and underlying etiologies of familiar cases of ILD may be identified. One infant with a missense mutation on one allele was still alive at six years of age showing lung histology of DIP, suggesting that ABCA3 mutations may result in a milder course of disease. These findings indicate that a high percentage of unclear casesof lethal neonatal lung disease may be due http://respiratory-research.com/content/6/1/32 to mutations in the ABCA3 gene and affected families could benefit from genetic counseling. Except for one patient, the phenotype of non-fatal lung disease caused by ABCA3 mutations is unknown and requires screening for ABCA3 mutations in neonates and children with severe ILD where no underlying cause can be found
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