title: ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8-year-old girl.
abstract: 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.
authors.affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, 2-1 Seiryoumachi, Aoba-ku, Sendai, 980-8575, Japan.
authors.forename: Chiharu
authors.initials: C
authors.lastname: Ota
authors.affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, 2-1 Seiryoumachi, Aoba-ku, Sendai, 980-8575, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Kimura
authors.affiliation: Department of Pediatrics, Tohoku University Graduate School of Medicine, 2-1 Seiryoumachi, Aoba-ku, Sendai, 980-8575, Japan.
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000925:Anticoagulants / Q000627:therapeutic use*; D002121:Calcium Channel Blockers / Q000627:therapeutic use*; D002648:Child; D005260:Female; D006699:Home Care Services; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D009154:Mutation / Q000235:genetics; D010102:Oxygen Inhalation Therapy; D011656:Pulmonary Emphysema / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D011658:Pulmonary Fibrosis / Q000175:diagnosis* / Q000628:therapy; D016896:Treatment Outcome; D014859:Warfarin / Q000627:therapeutic use*
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D000925:Anticoagulants; D002121:Calcium Channel Blockers; D014859:Warfarin
keywords: ABCA3; pulmonary fibrosis and emphysema; pulmonary hypertension; surfactant biology and pathophysiology