ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8-year-old girl

Pediatric Pulmonology
Chiharu OtaShigeo Kure

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.

References

Sep 16, 2005·Chest·Hiroshi KuboHidetada Sasaki
Aug 28, 2007·The Journal of Pediatrics·Anette M KunigJohn P Kinsella
May 30, 2014·American Journal of Respiratory and Critical Care Medicine·Jennifer A WambachLawrence M Nogee

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Citations

Sep 28, 2016·Journal of Medical Case Reports·Harry PachajoaDiana Duarte
Apr 26, 2017·Pediatric Pulmonology·David J BirnkrantTerry L Noah
Apr 15, 2017·Journal of Pharmaceutical Sciences·Mikihisa TakanoRyoko Yumoto
Mar 28, 2018·Orphanet Journal of Rare Diseases·Meike HengstMatthias Griese
Sep 9, 2017·Oncotarget·Aurélie HautefortFrédéric Perros
Dec 28, 2016·Cell and Tissue Research·Michael F Beers, Surafel Mulugeta
Aug 29, 2019·Journal of Clinical Medicine·Nadia NathanAnnick Clement
Jul 3, 2021·International Journal of Molecular Sciences·Stanislav Kotlyarov, Anna Kotlyarova

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