ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8‐year‐old girl. Issue 6 (18th January 2016)

• Record Type: Journal Article
• Authors: Ota, Chiharu; Kimura, Masato; Kure, Shigeo
• Is Part Of: Pediatric pulmonology. Volume 51:Issue 6(2016:Jun.)
• Page Start: E21
• Page End: E23
• Publication Date: 2016-01-18
• Subjects: ABCA3 -- pulmonary fibrosis and emphysema -- pulmonary hypertension -- surfactant biology and pathophysiology; Pediatric respiratory diseases -- Periodicals; Pediatrics -- Periodicals; 618.922
• DOI: 10.1002/ppul.23379
• Languages: English
• ISSNs: 8755-6863

Abstract

Summary: ABCA3 is highly expressed in alveolar epithelial type 2 cells and is associated with surfactant homeostasis. Patients with ABCA3 mutations develop various respiratory complications, such as fatal respiratory distress syndrome or interstitial lung disease. We describe a patient with pulmonary fibrosis and emphysema with pulmonary hypertension, associated with compound heterozygous mutations of the ABCA3 gene. This is the first report showing that mutations in the ABCA3 gene lead to pulmonary fibrosis and emphysema, including combined pulmonary fibrosis and emphysema, in childhood. Treatment with prostacyclin analogue, warfarin, and inhaled oxygen was effective to improve patient's hemodynamic condition as well as pulmonary fibrosis and emphysema.Pediatr Pulmonol. 2016;51:E21–E23 . © 2016 Wiley Periodicals, Inc.