{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:50:19Z","timestamp":1791366619549,"version":"4.3.1"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","license":[{"start":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T00:00:00Z","timestamp":1791244800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Semin Respir Crit Care Med"],"abstract":"<jats:p>Genetic disorders of surfactant metabolism, caused by pathogenic variants in the surfactant related genes (SRG) SFTPB, ABCA3, SFTPC and NKX2-1, were long considered as diseases of the neonate and the infant, with an outcome measured in weeks or months. Advances in neonatal intensive care, increased awareness, earlier molecular diagnosis, structured management and pediatric lung transplantation have generated a growing population of adolescents and young adults living with a surfactant metabolism disorder. In the largest European survey of childhood interstitial lung disease (chILD) survivors, surfactant-related disorders accounted for about one in five patients now followed in adult centers. These patients must leave pediatric services that have often known them for many years, entering adult respiratory care systems which are primarily around fibrotic lung disease of the older adults: a setting where SRG diseases are rarely recognized.\n\nNo literature is specifically devoted to transition in surfactant metabolism disorders. Therefore, this review brings together three bodies of evidence: the pediatric natural history of SFTPB, ABCA3, SFTPC and NKX2-1 related disorders; specificities of SRG ILD surviving into and\/or presenting in adulthood; the general principles of transition in rare disease, including the recent European Respiratory Society (ERS) statement on transition of care in chILD and what each implies for this group. Finally, the patient and family perspective were discussed, based on very sparse qualitative research. A proposed framework and a research agenda were suggested.<\/jats:p>","DOI":"10.1055\/a-2969-5498","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T08:39:39Z","timestamp":1791362379000},"source":"Crossref","is-referenced-by-count":0,"title":["Pediatric-to-adult transition of care in patients with surfactant metabolism disorders"],"prefix":"10.1055","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5149-7975","authenticated-orcid":false,"given":"Nadia","family":"Nathan","sequence":"additional","affiliation":[{"name":"Sorbonne University, \u00cele-de-France, France","place":["Paris"],"department":["Pediatric Pulmonology Department and Reference Centre for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, AP-HP"]},{"name":"INSERM, \u00cele-de-France, France","place":["Paris"],"department":["UMR_S933 Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rapha\u00ebl","family":"Borie","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, \u00cele-de-France, France","place":["Paris"],"department":["UMR Inserm 1149, CRI"]},{"name":"AP-HP, \u00cele-de-France, France","place":["Paris"],"department":["Service de Pneumologie Allergologie et Transplantation, H\u00f4pital Bichat, AP-HP, Centre Constitutif du Centre de R\u00e9f\u00e9rence des Maladies Pulmonaires Rares, FHU INFIRE"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlee","family":"Gilbert","sequence":"additional","affiliation":[{"name":"University of Liverpool, England, United Kingdom of Great Britain and Northern Ireland","place":["Liverpool"],"department":["Institute for Population Health, Eleanor Rathbone Building Bedford Street South"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Thouvenin","sequence":"additional","affiliation":[{"name":"Sorbonne University, \u00cele-de-France, France","place":["Paris"],"department":["Pediatric Pulmonology Department and Reference Centre for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, AP-HP"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harriet","family":"Corvol","sequence":"additional","affiliation":[{"name":"Sorbonne University, \u00cele-de-France, France","place":["Paris"],"department":["Pediatric Pulmonology Department and Reference Centre for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, AP-HP"]},{"name":"Centre de Recherche Saint-Antoine, \u00cele-de-France, France","place":["Paris"],"department":["Maladies pulmonaires, pathog\u00e8nes, physiopathologie, ph\u00e9nog\u00e9nomique et m\u00e9decine personnalis\u00e9e"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elora","family":"Peulier-Maitre","sequence":"additional","affiliation":[{"name":"Sorbonne University, \u00cele-de-France, France","place":["Paris"],"department":["Pediatric Pulmonology Department and Reference Centre for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, AP-HP"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Louvrier","sequence":"additional","affiliation":[{"name":"INSERM, \u00cele-de-France, France","place":["Paris"],"department":["UMR_S933 Laboratory of Childhood Genetic Diseases, Armand Trousseau Hospital"]},{"name":"Sorbonne University, \u00cele-de-France, France","place":["Paris"],"department":["AP-HP, Molecular Genetics Unit, Medical Genetics Department, Armand Trousseau Hospital"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1731-7069","authenticated-orcid":false,"given":"Effrosyni D","family":"Manali","sequence":"additional","affiliation":[{"name":"National and Kapodistrian University of Athens, Greece","place":["Athens"],"department":["2nd Pulmonary Medicine Department General University Hospital Attikon"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","container-title":["Seminars in Respiratory and Critical Care Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2969-5498.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T08:57:10Z","timestamp":1791363430000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2969-5498"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,6]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1055\/a-2969-5498","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["1069-3424","1098-9048"],"issn-type":[{"value":"1069-3424","type":"print"},{"value":"1098-9048","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,10,6]]},"published":{"date-parts":[[2026,10,6]]}}}