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ABCA 3 mutation associated childhood Interstitial Lung Disease (chILD) presenting as Combined Pulmonary Fibrosis and Emphysema in siblings.
  • Manjit Tendolkar,
  • Rahul Tyagi,
  • Ajay Handa
Manjit Tendolkar
Indian Naval Hospital Ship Asvini
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Rahul Tyagi
Indian Naval Hospital Ship Asvini
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Ajay Handa
Indian Naval Hospital Ship Asvini
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Abstract

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.