ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8‐year‐old girl
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Auteurs : Chiharu Ota [Japon] ; Masato Kimura [Japon] ; Shigeo Kure [Japon]Source :
- Pediatric Pulmonology [ 8755-6863 ] ; 2016-06.
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.
Url:
DOI: 10.1002/ppul.23379
Affiliations:
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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.</div></front></TEI><affiliations><list><country><li>Japon</li></country></list><tree><country name="Japon"><noRegion><name sortKey="Ota, Chiharu" sort="Ota, Chiharu" uniqKey="Ota C" first="Chiharu" last="Ota">Chiharu Ota</name></noRegion><name sortKey="Kimura, Masato" sort="Kimura, Masato" uniqKey="Kimura M" first="Masato" last="Kimura">Masato Kimura</name><name sortKey="Kure, Shigeo" sort="Kure, Shigeo" uniqKey="Kure S" first="Shigeo" last="Kure">Shigeo Kure</name><name sortKey="Ota, Chiharu" sort="Ota, Chiharu" uniqKey="Ota C" first="Chiharu" last="Ota">Chiharu Ota</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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