{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:57:06Z","timestamp":1791320226176,"version":"4.3.1"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,1,18]],"date-time":"2016-01-18T00:00:00Z","timestamp":1453075200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:label\/><jats:p>ABCA3 is highly expressed in alveolar epithelial type 2 cells and is associated with surfactant homeostasis. Patients with <jats:italic>ABCA3<\/jats:italic> 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 <jats:italic>ABCA3<\/jats:italic> gene. This is the first report showing that mutations in the <jats:italic>ABCA3<\/jats:italic> 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. <jats:bold>Pediatr Pulmonol. 2016;51:E21\u2013E23<\/jats:bold>. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.23379","type":"journal-article","created":{"date-parts":[[2016,1,18]],"date-time":"2016-01-18T15:20:39Z","timestamp":1453130439000},"source":"Crossref","is-referenced-by-count":30,"title":["ABCA3 mutations led to pulmonary fibrosis and emphysema with pulmonary hypertension in an 8\u2010year\u2010old girl"],"prefix":"10.1002","volume":"51","author":[{"given":"Chiharu","family":"Ota","sequence":"first","affiliation":[{"name":"Department of Pediatrics Tohoku University Graduate School of Medicine, 2\u20101 Seiryoumachi Aoba\u2010ku Sendai 980\u20108575 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masato","family":"Kimura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tohoku University Graduate School of Medicine, 2\u20101 Seiryoumachi Aoba\u2010ku Sendai 980\u20108575 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeo","family":"Kure","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tohoku University Graduate School of Medicine, 2\u20101 Seiryoumachi Aoba\u2010ku Sendai 980\u20108575 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,1,18]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201402-0342OC"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/thx.2010.151407"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2007.05.054"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1465-9921-11-34"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.128.3.1475"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.23379","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.23379","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.23379","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T15:08:21Z","timestamp":1696345701000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.23379"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,18]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["10.1002\/ppul.23379"],"URL":"https:\/\/doi.org\/10.1002\/ppul.23379","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,1,18]]}}}