ABCA 3 mutation associated childhood Interstitial Lung Disease (chILD)
presenting as Combined Pulmonary Fibrosis and Emphysema in siblings.
Childhood interstitial lung diseases (chILD) are a rare presentation. We
report case of siblings diagnosed with combined pulmonary fibrosis and
emphysema (CPFE) attributable to ABCA 3 mutation. It highlights the
progressive nature of the disease as it unfolds itself in both the
siblings at around the same age. This is the second case of chILD with
CPFE reported in literature and the first evidence of its occurrence in
siblings adds to the novelty.