{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:40:03Z","timestamp":1756312803764,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,6,24]]},"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:p>A middle-aged man was referred to our respiratory department with dyspnoea progressively deteriorating and non-productive cough over the past 8 months. High-resolution CT revealed multiple bilateral consolidations, traction bronchiectasis, reticular pattern and honeycombing with basal and peripheral predominance. Serology tests were negative. Pulmonary function tests showed moderate restrictive functional impairment and severe reduction in diffusing capacity for carbon monoxide. Meticulous evaluation of patient\u2019s medical history revealed recent administration of oral corticosteroid due to pulmonary fibrosis potentially in the context of Fanconi syndrome diagnosed at childhood. The working diagnosis of interstitial lung disease (ILD) as a rare complication of Fanconi syndrome was proposed following multidisciplinary discussion. Despite combination treatment with low doses of corticosteroids and antifibrotic compound, the patient exhibited clinical, radiological and functional deterioration, was admitted to intensive care unit due to respiratory failure following infection-driven progression of fibrotic ILD and finally died.<\/jats:p>","DOI":"10.1136\/bcr-2022-249242","type":"journal-article","created":{"date-parts":[[2022,7,4]],"date-time":"2022-07-04T12:11:33Z","timestamp":1656936693000},"page":"e249242","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Fanconi syndrome-associated interstitial lung disease"],"prefix":"10.1136","volume":"15","author":[{"given":"Ourania","family":"Papaioannou","sequence":"first","affiliation":[{"name":"Department of Respiratory Medicine, University General Hospital of Patras, Patras, Perif\u00e9ria Dhitik\u00eds Ell\u00e1dh, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theodoros","family":"Karampitsakos","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, University General Hospital of Patras, Patras, Perif\u00e9ria Dhitik\u00eds Ell\u00e1dh, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fotios","family":"Sampsonas","sequence":"additional","affiliation":[{"name":"Respiratory, University General Hospital of Patras, Patra, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Argyrios","family":"Tzouvelekis","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, University General Hospital of Patras, Patras, Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,7,4]]},"reference":[{"key":"2025082709134234000_15.7.e249242.1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.pcl.2018.09.002","article-title":"Fanconi syndrome","volume":"66","author":"Foreman","year":"2019","journal-title":"Pediatr Clin North Am"},{"key":"2025082709134234000_15.7.e249242.2","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605743"},{"key":"2025082709134234000_15.7.e249242.3","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e3181f8cac0"},{"key":"2025082709134234000_15.7.e249242.4","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-007-0553-8"},{"key":"2025082709134234000_15.7.e249242.5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw245"},{"key":"2025082709134234000_15.7.e249242.6","doi-asserted-by":"crossref","DOI":"10.1183\/16000617.0122-2016","article-title":"Management of suspected monogenic lung fibrosis in a specialised centre","volume":"26","author":"Borie","year":"2017","journal-title":"Eur Respir Rev"},{"key":"2025082709134234000_15.7.e249242.7","doi-asserted-by":"crossref","DOI":"10.1183\/16000617.0053-2019","article-title":"The genetics of interstitial lung diseases","volume":"28","author":"Borie","year":"2019","journal-title":"Eur Respir Rev"},{"key":"2025082709134234000_15.7.e249242.8","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201406-1162OC"},{"key":"2025082709134234000_15.7.e249242.9","doi-asserted-by":"publisher","DOI":"10.1038\/nm.4447"},{"key":"2025082709134234000_15.7.e249242.10","doi-asserted-by":"crossref","first-page":"246","DOI":"10.3389\/fmed.2017.00246","article-title":"Metabolic disorders in chronic lung diseases","volume":"4","author":"Papaioannou","year":"2017","journal-title":"Front Med"},{"key":"2025082709134234000_15.7.e249242.11","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1002\/mus.26726","article-title":"Clinical myopathy in patients with nephropathic cystinosis","volume":"61","author":"Sadjadi","year":"2020","journal-title":"Muscle Nerve"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-249242","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:13:47Z","timestamp":1756311227000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-249242"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":11,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2022,7,4]]},"published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1136\/bcr-2022-249242"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-249242","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,7]]}}}