Genetic Causes of Interstitial Lung Disease in Children

Interstitial lung diseases (ILDs) occur through out childhood and adult life. In neonates and infants, defects in lung development and growth and defects in surfactant production and function are common features with the environmental factors being less important. For older children, genetic background combined with environmental exposure is central to the pathophysiology of ILD. In adults, environmental exposure becomes more critical to mechanism of disease with genetic background becoming less essential. Thus ILDs are often multifactorial in origin but recently molecular genetic defects have been described, especially in children. Thus, genetic testing is a non-invasive investigation that is likely to identify the genetic underpinning of childhood interstitial lung diseases (chILD). This is likely to provide insights into the mechanism of disease, which that may be helpful for treatment and defining the prognosis. This review summarizes genetic defects that can lead to ILDs, and highlights the recent advances in several kinds of chILD.