{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T18:46:49Z","timestamp":1787856409676,"version":"build-2784847793"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,5,2]],"date-time":"2018-05-02T00:00:00Z","timestamp":1525219200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1186\/s13023-018-0818-2","type":"journal-article","created":{"date-parts":[[2018,5,2]],"date-time":"2018-05-02T01:45:48Z","timestamp":1525225548000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome"],"prefix":"10.1186","volume":"13","author":[{"given":"Giorgia","family":"Bucciol","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Cassiman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Roskams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marleen","family":"Renard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilse","family":"Hoffman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Witters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rik","family":"Schrijvers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi","family":"Schaballie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Bosch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Caterina","family":"Putti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Gheysens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noel","family":"Knops","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Gewillig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Djalila","family":"Mekahli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Pirenne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Meyts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,5,2]]},"reference":[{"key":"818_CR1","doi-asserted-by":"crossref","unstructured":"Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann N Y Acad Sci. 2011;1242:40\u201355.","DOI":"10.1111\/j.1749-6632.2011.06349.x"},{"key":"818_CR2","doi-asserted-by":"crossref","unstructured":"Cipolli M. Shwachman-Diamond syndrome: clinical phenotypes. Pancreatology. 2001;1(5):543\u20138.","DOI":"10.1159\/000055858"},{"key":"818_CR3","doi-asserted-by":"crossref","unstructured":"Toiviainen-Salo S, Durie PR, Numminen K, Heikkil\u00e4 P, Marttinen E, Savilahti E, M\u00e4kitie O. The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood. J Pediatr. 2009;155(6):807\u2013811.e2.","DOI":"10.1016\/j.jpeds.2009.06.047"},{"key":"818_CR4","doi-asserted-by":"crossref","unstructured":"Hathcock JN, Hattan DG, Jenkins MY, et al. Evaluation of vitamin A toxicity. Am J Clin Nutr. 1990;52:183\u2013202.","DOI":"10.1093\/ajcn\/52.2.183"},{"key":"818_CR5","doi-asserted-by":"crossref","unstructured":"Geubel AP, De Galocsy C, Alves N, Rahier J, Dive C. Liver damage caused by therapeutic vitamin A administration: estimate of dose-related toxicity in 41 cases. Gastroenterology. 1991;100(6):1701\u20139.","DOI":"10.1016\/0016-5085(91)90672-8"},{"issue":"7","key":"818_CR6","doi-asserted-by":"publisher","first-page":"1440","DOI":"10.1097\/TP.0000000000001229","volume":"100","author":"MJ Krowka","year":"2016","unstructured":"Krowka MJ, Fallon MB, Kawut SM, Fuhrmann V, Heimbach JK, Ramsay MA, Sitbon O, Sokol RJ. International liver transplant society practice guidelines: diagnosis and Management of Hepatopulmonary Syndrome and Portopulmonary Hypertension. Transplantation. 2016;100(7):1440\u201352.","journal-title":"Transplantation"},{"issue":"2","key":"818_CR7","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1111\/j.1600-6143.2009.02822.x","volume":"10","author":"S Gupta","year":"2010","unstructured":"Gupta S, Castel H, Rao RV, Picard M, Lilly L, Faughnan ME, Pomier-Layrargues G. Improved survival after liver transplantation in patients with hepatopulmonary syndrome. Am J Transplant. 2010;10(2):354\u201363.","journal-title":"Am J Transplant"},{"key":"818_CR8","doi-asserted-by":"crossref","unstructured":"Schaballie H, Renard M, Vermylen C, Scheers I, Revencu N, Regal L, et al. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome. Eur J Pediatr. 2013;172:613\u201322.","DOI":"10.1007\/s00431-012-1908-0"},{"key":"818_CR9","doi-asserted-by":"crossref","unstructured":"Penniston KL, Tanumihardjo SA. The acute and chronic toxic effects of vitamin A. Am J Clin Nutr. 2006;83(2):191\u2013201.","DOI":"10.1093\/ajcn\/83.2.191"},{"key":"818_CR10","doi-asserted-by":"crossref","unstructured":"Croquet V, Pilette C, Lespine A, Vuillemin E, Rousselet MC, Oberti F, Saint Andr\u00e9 JP, Periquet B, Fran\u00e7ois S, Ifrah N, Cal\u00e8s P. Hepatic hyper-vitaminosis A: importance of retinyl ester level determination. Eur J Gastroenterol Hepatol. 2000;12(3):361\u20134.","DOI":"10.1097\/00042737-200012030-00016"},{"key":"818_CR11","unstructured":"Tanumihardjo SA. Biomarkers of vitamin A status: what do they mean? In: World Health Organization. Report: priorities in the assessment of vitamin a and iron status in populations. Panama City, Panama, 15\u201317 September 2010. Geneva, World Health Organization, 2012."},{"key":"818_CR12","doi-asserted-by":"crossref","unstructured":"Erickson JM, Mawson AR. Possible role of endogenous retinoid (vitamin A) toxicity in the pathophysiology of primary biliary cirrhosis. J Theor Biol. 2000;206(1):47\u201354.","DOI":"10.1006\/jtbi.2000.2102"},{"key":"818_CR13","doi-asserted-by":"crossref","unstructured":"J\u00f8rgensen SF, Macpherson ME, Bj\u00f8ro K, Karlsen TH, Reims HM, Grzyb K, Fosby B, Fevang B, Aukrust P, Nord\u00f8y I. Liver transplantation in patients with primary antibody deficiency. J Allergy Clin Immunol. 2017;139(5):1708-1710.e2.","DOI":"10.1016\/j.jaci.2016.10.025"},{"issue":"1","key":"818_CR14","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1097\/00007890-200301150-00022","volume":"75","author":"DM Smith","year":"2003","unstructured":"Smith DM, Agura E, Netto G, Collins R, Levy M, Goldstein R, et al. Liver transplant-associated graft-versus-host disease. Transplantation. 2003;75(1):118\u201326.","journal-title":"Transplantation"},{"issue":"2 Suppl 1","key":"818_CR15","doi-asserted-by":"publisher","first-page":"S54","DOI":"10.1002\/hep.21060","volume":"43","author":"V Racanelli","year":"2006","unstructured":"Racanelli V, Rehermann B. The liver as an immunological organ. Hepatology. 2006;43(2 Suppl 1):S54\u201362.","journal-title":"Hepatology"},{"issue":"5","key":"818_CR16","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1056\/NEJM200002033420504","volume":"342","author":"N Hadzi\u0107","year":"2000","unstructured":"Hadzi\u0107 N, Pagliuca A, Rela M, Portmann B, Jones A, Veys P, et al. Correction of the hyper-IgM syndrome after liver and bone marrow transplantation. N Engl J Med. 2000;342(5):320\u20134.","journal-title":"N Engl J Med"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-018-0818-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13023-018-0818-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-018-0818-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T23:19:17Z","timestamp":1556752757000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-018-0818-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,2]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["818"],"URL":"https:\/\/doi.org\/10.1186\/s13023-018-0818-2","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,2]]},"assertion":[{"value":"10 August 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 April 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 May 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Ethics approval was granted by the Ethical Committee of the University Hospital Leuven\/KU Leuven for this case report.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Consent was obtained from the patient for publication.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"69"}}