{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T04:29:41Z","timestamp":1790310581331,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T00:00:00Z","timestamp":1596758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Paediatric disorders of pulmonary surfactant may occur due to mutations involving surfactant proteins B and C, and ATP\u2010binding cassette subfamily A member 3 (<jats:italic>ABCA3<\/jats:italic>) genes. Recessive frameshift or nonsense <jats:italic>ABCA3<\/jats:italic> mutations are associated with respiratory failure and neonatal death but milder phenotypes of <jats:italic>ABCA3<\/jats:italic> deficiency due to missense, splice site, and insertion\/deletions may result in survival beyond infancy. To date, only one case report describes the clinical course from birth to age 21\u2009years and there are less than 10 adult cases. No guidelines exist for medical therapy due to the rarity of this condition. We describe the clinical course of a patient over 39\u2009years and her younger brother who were both diagnosed at birth with an unspecified paediatric interstitial lung disease (ILD) and were eventually diagnosed with <jats:italic>ABCA3<\/jats:italic> mutation in their adulthood. Our report highlights the minimal progression of the <jats:italic>ABCA3<\/jats:italic>\u2010related ILD without long\u2010term medications, but the development of dyspnoea due to progressive pulmonary hypertension and airflow obstruction.<\/jats:p>","DOI":"10.1002\/rcr2.633","type":"journal-article","created":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T21:10:26Z","timestamp":1596834626000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["<scp><i>ABCA3<\/i><\/scp> deficiency from birth to adulthood presenting as paediatric interstitial lung disease"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0735-4691","authenticated-orcid":false,"given":"Jin\u2010Gun","family":"Cho","sequence":"first","affiliation":[{"name":"Ludwig Engel Centre for Respiratory Research Westmead Institute of Medical Research  Westmead NSW Australia"},{"name":"Department of Respiratory and Sleep Medicine Westmead Hospital  Westmead NSW Australia"},{"name":"Westmead Clinical School, Faculty of Medicine and Health The University of Sydney  Westmead NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devesh","family":"Thakkar","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Liverpool Hospital  Liverpool NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Buchanan","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Liverpool Hospital  Liverpool NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Graf","sequence":"additional","affiliation":[{"name":"Histopathology Department The Children's Hospital at Westmead, Sydney Children's Hospital Network  Westmead NSW Australia"},{"name":"The Children's Hospital Westmead Clinical School, Faculty of Medicine and Health The University of Sydney  Westmead NSW Australia"},{"name":"School of Medicine Western Sydney University  Campbelltown NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Wheatley","sequence":"additional","affiliation":[{"name":"Ludwig Engel Centre for Respiratory Research Westmead Institute of Medical Research  Westmead NSW Australia"},{"name":"Department of Respiratory and Sleep Medicine Westmead Hospital  Westmead NSW Australia"},{"name":"Westmead Clinical School, Faculty of Medicine and Health The University of Sydney  Westmead NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,7]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.2350\/09-01-0586.1"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa032178"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M611767200"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201402-0342OC"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCP.0000000000000680"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2016-208649"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/thx.2007.083766"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200503-504OC"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.01.017"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Frcr2.633","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.633","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/rcr2.633","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.633","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T15:28:03Z","timestamp":1693841283000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.633"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,7]]},"references-count":9,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1002\/rcr2.633"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.633","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"value":"2051-3380","type":"print"},{"value":"2051-3380","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,7]]},"assertion":[{"value":"2020-06-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e00633"}}