{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:28:07Z","timestamp":1790803687588,"version":"4.1.0"},"reference-count":24,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Allergy, Immunology, and Pulmonology"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Interstitial lung disease (ILD) has been recently reported in a few patients with pathogenic variants in the Filamin A (\n                      <jats:italic toggle=\"yes\">FLNA<\/jats:italic>\n                      ) gene with variable presentation and prognosis. This study evaluated the respiratory manifestations and clinical features in children with\n                      <jats:italic toggle=\"yes\">FLNA<\/jats:italic>\n                      disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      We conducted a retrospective review of pediatric patients with variants in\n                      <jats:italic toggle=\"yes\">FLNA<\/jats:italic>\n                      in a tertiary children's hospital. The clinical features, genotype, management, and outcomes were analyzed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      We identified 9 patients with variants in\n                      <jats:italic toggle=\"yes\">FLNA<\/jats:italic>\n                      aged 15 months to 24 years, 4 females and 5 males. Six patients had abnormal chest imaging ranging from mild interstitial prominence to atelectasis, interstitial densities, and hyperinflation. Three patients with ILD presented during the neonatal period or early infancy with respiratory distress or respiratory failure requiring supplemental oxygen or assisted ventilation via tracheostomy. We report male twins with the same\n                      <jats:italic toggle=\"yes\">FLNA<\/jats:italic>\n                      variant and lung disease, but different ages and clinical features at presentation eventually culminating in respiratory failure requiring assisted ventilation. All patients had\n                      <jats:italic toggle=\"yes\">FLNA<\/jats:italic>\n                      variants identified by\n                      <jats:italic toggle=\"yes\">FLNA<\/jats:italic>\n                      sequencing, had abnormal echocardiograms, and none of the patients underwent lung biopsy or lung transplantation. The outcomes were variable and could be as severe as chronic respiratory failure.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      The wide spectrum of respiratory manifestations and abnormal chest imaging in our study highlights the importance of evaluation for lung disease in patients with variants in\n                      <jats:italic toggle=\"yes\">FLNA<\/jats:italic>\n                      .\n                      <jats:italic toggle=\"yes\">FLNA<\/jats:italic>\n                      sequencing in suspected cases with ILD may obviate the need for a lung biopsy, prompt surveillance for progressive lung disease, and evaluation for associated clinical features.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/ped.2020.1280","type":"journal-article","created":{"date-parts":[[2021,3,18]],"date-time":"2021-03-18T12:24:06Z","timestamp":1616070246000},"page":"7-14","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":12,"title":["Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease"],"prefix":"10.1177","volume":"34","author":[{"given":"Amit S.","family":"Shah","sequence":"first","affiliation":[{"name":"Division of Pediatric Pulmonology, Department of Pediatrics, Children's Healthcare of Atlanta, Emory University, Atlanta, Georgia, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily D.","family":"Black","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Emory University, Atlanta, Georgia, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn M.","family":"Simon","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pulmonology, Department of Pediatrics, Children's Healthcare of Atlanta, Emory University, Atlanta, Georgia, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Gambello","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Emory University, Atlanta, Georgia, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn B.","family":"Garber","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Emory University, Atlanta, Georgia, USA."},{"name":"EGL Genetics, Tucker, Georgia, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glen J.","family":"Iannucci","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Department of Pediatrics, Emory University, Children's Healthcare of Atlanta, Atlanta, Georgia, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica L.","family":"Riedesel","sequence":"additional","affiliation":[{"name":"Department of Radiology, Children's Healthcare of Atlanta, Emory University, Atlanta, Georgia, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajay S.","family":"Kasi","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pulmonology, Department of Pediatrics, Children's Healthcare of Atlanta, Emory University, Atlanta, Georgia, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2021,3,17]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-018-3301-0"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.23695"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.03.045"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.09.010"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.12.009"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.4187\/respcare.02847"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmcr.2018.06.010"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-019-1460-4"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.resinv.2019.02.008"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0331-9"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24002"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31197"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201305-0923ST"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcpc1904041"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000013033"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-016-0871-1"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcpc1613465"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38580"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.11"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-07-365601"},{"key":"e_1_3_4_25_2","unstructured":"Chen MH Walsh CA. FLNA-related periventricular nodular heterotopia. In: Adam MP Ardinger HH Pagon RA et al. eds. GeneReviews. Seattle: University of Washington 2015. Available at https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1213\/ (accessed December7 2020)."}],"container-title":["Pediatric Allergy, Immunology, and Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/ped.2020.1280","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/ped.2020.1280","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/ped.2020.1280","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T23:15:02Z","timestamp":1777677302000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.1089\/ped.2020.1280"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1089\/ped.2020.1280"],"URL":"https:\/\/doi.org\/10.1089\/ped.2020.1280","relation":{},"ISSN":["2151-321X","2151-3228"],"issn-type":[{"value":"2151-321X","type":"print"},{"value":"2151-3228","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3]]}}}