{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T11:37:20Z","timestamp":1771673840772,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T00:00:00Z","timestamp":1667779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The loss of function (LOF) due to mutations in the Filamin A (FLNA) gene may result in abnormality of the FLNA\u00a0protein. Of the many clinical syndromes, this condition may produce chronic lung disease, which usually presents and is diagnosed in the infant\/toddler age group. Its clinical pattern may mimic broncho\u2010pulmonary dysplasia. It is part of the entities included in childhood interstitial lung disease\u00a0group of disorders. We are herein reporting a patient that was diagnosed with FLNA\u2010associated lung disease at 11\u00a0years of age. This case provides a unique insight into the long\u2010term course of lung disease in this illness and broadens our understanding of the spectrum of its presentation. Although the patient had symptoms early in life, the diagnosis was not entertained because of the rarity of the disorder, its atypical and clinically mild presentation, and discontinuous care due to parents moving to different cities for employment reasons. Her presentation to our institution was for pneumonia. Due to highly unusual chest X\u2010ray images, asthenia, and early clubbing, an extensive workup included further imaging and a lung biopsy. The final diagnosis was confirmed by the detection of FLNA LOF\u00a0gene mutation.<\/jats:p>","DOI":"10.1002\/ppul.26156","type":"journal-article","created":{"date-parts":[[2022,9,29]],"date-time":"2022-09-29T22:14:35Z","timestamp":1664489675000},"page":"61-65","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Case report: Filamin A mutation lung disease recognized in an 11\u2010year\u2010old child"],"prefix":"10.1002","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6902-6810","authenticated-orcid":false,"given":"Tahira","family":"West","sequence":"first","affiliation":[{"name":"Advocate Children's Hospital Oak Lawn Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikita","family":"Williamson","sequence":"additional","affiliation":[{"name":"Advocate Children's Hospital Oak Lawn Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javeed","family":"Akhter","sequence":"additional","affiliation":[{"name":"Advocate Children's Hospital Oak Lawn Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-016-0871-1"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.4187\/respcare.02847"},{"key":"e_1_2_8_4_1","article-title":"Cardiovascular, brain, and lung involvement in a newborn with a novel FLNA mutation: a case report and literature review","author":"Meliota G","year":"2021","journal-title":"Adv Neonatal Care"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-019-1460-4"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-018-3301-0"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700413"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0331-9"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.09.010"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.03.045"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.25681"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016-3901"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-019-1460-4"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.26156","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ppul.26156","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.26156","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T22:20:00Z","timestamp":1692483600000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.26156"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,7]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1002\/ppul.26156"],"URL":"https:\/\/doi.org\/10.1002\/ppul.26156","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,7]]},"assertion":[{"value":"2022-04-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}