{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T19:14:56Z","timestamp":1781118896974,"version":"3.54.1"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,4,20]],"date-time":"2018-04-20T00:00:00Z","timestamp":1524182400000},"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\/s13023-018-0806-6","type":"journal-article","created":{"date-parts":[[2018,4,20]],"date-time":"2018-04-20T08:25:44Z","timestamp":1524212744000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Pulmonary hemosiderosis in children with Down syndrome: a national experience"],"prefix":"10.1186","volume":"13","author":[{"name":"for the French RespiRare\u00ae group","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelia","family":"Alimi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Taytard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rola","family":"Abou Taam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Houdouin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aude","family":"Forgeron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Lubrano Lavadera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierrick","family":"Cros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Gibertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyne","family":"Derelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Deschildre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Thumerelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"Epaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Reix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Fayon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Roullaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Troussier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Catherine","family":"Renoux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"de Blic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Leyronnas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Thouvenin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Perisson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aim\u00e9","family":"Ravel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Clement","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harriet","family":"Corvol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5149-7975","authenticated-orcid":false,"given":"Nadia","family":"Nathan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,4,20]]},"reference":[{"issue":"2","key":"806_CR1","first-page":"215","volume":"116","author":"WL Drew","year":"1977","unstructured":"Drew WL, Finley TN, Golde DW. Diagnostic lavage and occult pulmonary hemorrhage in thrombocytopenic immunocompromised patients. Am Rev Respir Dis. 1977;116(2):215\u201321.","journal-title":"Am Rev Respir Dis"},{"key":"806_CR2","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1186\/1824-7288-40-35","volume":"40","author":"I Bakalli","year":"2014","unstructured":"Bakalli I, Kota L, Sala D, et al. Idiopathic pulmonary hemosiderosis - a diagnostic challenge. Ital J Pediatr. 2014;40:35.","journal-title":"Ital J Pediatr"},{"issue":"8\u20139","key":"806_CR3","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1016\/j.gcb.2008.05.010","volume":"32","author":"M Khemiri","year":"2008","unstructured":"Khemiri M, Ouederni M, Khaldi F, Barsaoui S. Screening for celiac disease in idiopathic pulmonary hemosiderosis. Gastroenterol Clin Biol. 2008;32(8\u20139):745\u20138.","journal-title":"Gastroenterol Clin Biol"},{"issue":"5753","key":"806_CR4","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1136\/bmj.2.5753.89","volume":"2","author":"DJ Lane","year":"1971","unstructured":"Lane DJ, Hamilton WS. Idiopathic steatorrhoea and idiopathic pulmonary haemosiderosis. Br Med J. 1971;2(5753):89\u201390.","journal-title":"Br Med J"},{"issue":"6","key":"806_CR5","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1111\/j.1399-3038.2005.00291.x","volume":"16","author":"I Moissidis","year":"2005","unstructured":"Moissidis I, Chaidaroon D, Vichyanond P, Bahna SL. Milk-induced pulmonary disease in infants (Heiner syndrome). Pediatr Allergy Immunol. 2005;16(6):545\u201352.","journal-title":"Pediatr Allergy Immunol"},{"issue":"6 Pt 2","key":"806_CR6","first-page":"657","volume":"53","author":"DC Heiner","year":"1984","unstructured":"Heiner DC. Respiratory diseases and food allergy. Ann Allergy. 1984;53(6 Pt 2):657\u201364.","journal-title":"Ann Allergy"},{"key":"806_CR7","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1186\/s13023-015-0319-5","volume":"10","author":"CIC Chin","year":"2015","unstructured":"Chin CIC, Kohn SL, Keens TG, Margetis MF, Kato RM. A physician survey reveals differences in management of idiopathic pulmonary hemosiderosis. Orphanet J Rare Dis. 2015;10:98.","journal-title":"Orphanet J Rare Dis"},{"key":"806_CR8","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1186\/1750-1172-8-161","volume":"8","author":"J Taytard","year":"2013","unstructured":"Taytard J, Nathan N, de BJ, et al. New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare(\u00ae) cohort. Orphanet J Rare Dis. 2013;8:161.","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"806_CR9","doi-asserted-by":"publisher","first-page":"1559","DOI":"10.1183\/13993003.01900-2016","volume":"48","author":"A Clement","year":"2016","unstructured":"Clement A, de BJ, Epaud R, et al. Management of children with interstitial lung diseases: the difficult issue of acute exacerbations. Eur Respir J. 2016;48(6):1559\u201363.","journal-title":"Eur Respir J"},{"issue":"3","key":"806_CR10","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1002\/ppul.21357","volume":"46","author":"GR Sethi","year":"2011","unstructured":"Sethi GR, Singhal KK, Puri AS, Mantan M. Benefit of gluten-free diet in idiopathic pulmonary hemosiderosis in association with celiac disease. Pediatr Pulmonol. 2011;46(3):302\u20135.","journal-title":"Pediatr Pulmonol"},{"issue":"9","key":"806_CR11","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1097\/GIM.0b013e3181b2e34c","volume":"11","author":"A M\u00e9garban\u00e9","year":"2009","unstructured":"M\u00e9garban\u00e9 A, Ravel A, Mircher C, et al. The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome. Genet Med. 2009;11(9):611\u20136.","journal-title":"Genet Med"},{"key":"806_CR12","doi-asserted-by":"publisher","first-page":"813541","DOI":"10.1155\/2011\/813541","volume":"2011","author":"A Tenenbaum","year":"2011","unstructured":"Tenenbaum A, Malkiel S, Wexler ID, Levy-Khademi F, Revel-Vilk S, Stepensky P. Anemia in children with Down syndrome. Int J Pediatr. 2011;2011:813541.","journal-title":"Int J Pediatr"},{"issue":"5","key":"806_CR13","doi-asserted-by":"publisher","first-page":"1009","DOI":"10.1111\/ped.12690","volume":"57","author":"H Watanabe","year":"2015","unstructured":"Watanabe H, Ayusawa M, Kato M, et al. Idiopathic pulmonary hemosiderosis complicated by Down syndrome. Pediatr Int Off J Jpn Pediatr Soc. 2015;57(5):1009\u201312.","journal-title":"Pediatr Int Off J Jpn Pediatr Soc"},{"issue":"6","key":"806_CR14","doi-asserted-by":"publisher","first-page":"506","DOI":"10.2500\/aap.2015.36.3888","volume":"36","author":"AA Mourad","year":"2015","unstructured":"Mourad AA, Parekh H, Bahna SL. A 17-month-old patient with severe anemia and respiratory distress. Allergy Asthma Proc. 2015;36(6):506\u201311.","journal-title":"Allergy Asthma Proc"},{"issue":"5","key":"806_CR15","first-page":"333","volume":"44","author":"SK Kabra","year":"2007","unstructured":"Kabra SK, Bhargava S, Lodha R, Satyavani A, Walia M. Idiopathic pulmonary hemosiderosis: clinical profile and follow up of 26 children. Indian Pediatr. 2007;44(5):333\u20138.","journal-title":"Indian Pediatr"},{"issue":"1","key":"806_CR16","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/j.prrv.2005.11.003","volume":"7","author":"TG Nuesslein","year":"2006","unstructured":"Nuesslein TG, Teig N, Rieger CH. Pulmonary haemosiderosis in infants and children. Paediatr Respir Rev. 2006;7(1):45\u20138.","journal-title":"Paediatr Respir Rev"},{"issue":"2","key":"806_CR17","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1542\/peds.2011-1605","volume":"128","author":"MJ Bull","year":"2011","unstructured":"Bull MJ. Committee on genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393\u2013406.","journal-title":"Pediatrics"},{"issue":"12","key":"806_CR18","doi-asserted-by":"publisher","first-page":"2031","DOI":"10.1007\/s10067-007-0606-1","volume":"26","author":"RM Nisihara","year":"2007","unstructured":"Nisihara RM, Skare TL, Silva MBG, et al. High positivity of anti-CCP antibodies in patients with Down syndrome. Clin Rheumatol. 2007;26(12):2031\u20135.","journal-title":"Clin Rheumatol"},{"key":"806_CR19","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1146\/annurev.immunol.25.022106.141532","volume":"27","author":"D Mathis","year":"2009","unstructured":"Mathis D, Benoist C. Aire. Annu Rev Immunol. 2009;27:287\u2013312.","journal-title":"Annu Rev Immunol"},{"issue":"5","key":"806_CR20","first-page":"2187","volume":"193","author":"G Skogberg","year":"2014","unstructured":"Skogberg G, Lundberg V, Lindgren S, et al. Altered expression of autoimmune regulator in infant Down syndrome thymus, a possible contributor to an autoimmune phenotype. J Immunol Baltim Md 1950. 2014;193(5):2187\u201395.","journal-title":"J Immunol Baltim Md 1950"},{"issue":"8","key":"806_CR21","first-page":"3872","volume":"193","author":"M Gim\u00e9nez-Barcons","year":"2014","unstructured":"Gim\u00e9nez-Barcons M, Caster\u00e0s A, Armengol M del P, et al. Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens. J Immunol Baltim Md 1950. 2014;193(8):3872\u20139.","journal-title":"J Immunol Baltim Md 1950"},{"issue":"1","key":"806_CR22","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1111\/bjh.12348","volume":"162","author":"F Meyr","year":"2013","unstructured":"Meyr F, Escherich G, Mann G, et al. Outcomes of treatment for relapsed acute lymphoblastic leukaemia in children with Down syndrome. Br J Haematol. 2013;162(1):98\u2013106.","journal-title":"Br J Haematol"},{"issue":"4","key":"806_CR23","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1007\/BF00444952","volume":"146","author":"M Peeters","year":"1987","unstructured":"Peeters M, Poon A. Down syndrome and leukemia: unusual clinical aspects and unexpected methotrexate sensitivity. Eur J Pediatr. 1987;146(4):416\u201322.","journal-title":"Eur J Pediatr"},{"issue":"1","key":"806_CR24","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1002\/pbc.20092","volume":"44","author":"JW Taub","year":"2005","unstructured":"Taub JW, Ge Y. Down syndrome, drug metabolism and chromosome 21. Pediatr Blood Cancer. 2005;44(1):33\u20139.","journal-title":"Pediatr Blood Cancer"},{"issue":"3","key":"806_CR25","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1111\/ped.12349","volume":"56","author":"T Saji","year":"2014","unstructured":"Saji T. Clinical characteristics of pulmonary arterial hypertension associated with Down syndrome. Pediatr Int Off J Jpn Pediatr Soc. 2014;56(3):297\u2013303.","journal-title":"Pediatr Int Off J Jpn Pediatr Soc"},{"key":"806_CR26","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1016\/j.jpeds.2016.08.063","volume":"180","author":"D Bush","year":"2017","unstructured":"Bush D, Abman SH, Galambos C. Prominent intrapulmonary bronchopulmonary anastomoses and abnormal lung development in infants and children with Down syndrome. J Pediatr. 2017;180:156\u2013162.e1.","journal-title":"J Pediatr"},{"issue":"3","key":"806_CR27","doi-asserted-by":"publisher","first-page":"L555","DOI":"10.1152\/ajplung.00408.2001","volume":"283","author":"TD Le Cras","year":"2002","unstructured":"Le Cras TD, Markham NE, Tuder RM, Voelkel NF, Abman SH. Treatment of newborn rats with a VEGF receptor inhibitor causes pulmonary hypertension and abnormal lung structure. Am J Physiol Lung Cell Mol Physiol. 2002;283(3):L555\u201362.","journal-title":"Am J Physiol Lung Cell Mol Physiol"},{"issue":"7299","key":"806_CR28","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1038\/nature09106","volume":"465","author":"LE Reynolds","year":"2010","unstructured":"Reynolds LE, Watson AR, Baker M, et al. Tumour angiogenesis is reduced in the Tc1 mouse model of Down\u2019s syndrome. Nature. 2010;465(7299):813\u20137.","journal-title":"Nature"},{"issue":"8","key":"806_CR29","doi-asserted-by":"publisher","first-page":"e0159005","DOI":"10.1371\/journal.pone.0159005","volume":"11","author":"C Galambos","year":"2016","unstructured":"Galambos C, Minic AD, Bush D, et al. Increased lung expression of anti-Angiogenic factors in Down syndrome: potential role in abnormal lung vascular growth and the risk for pulmonary hypertension. PLoS One. 2016;11(8):e0159005.","journal-title":"PLoS One"},{"key":"806_CR30","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.sleep.2015.09.014","volume":"17","author":"S Konstantinopoulou","year":"2016","unstructured":"Konstantinopoulou S, Tapia IE, Kim JY, et al. Relationship between obstructive sleep apnea cardiac complications and sleepiness in children with Down syndrome. Sleep Med. 2016;17:18\u201324.","journal-title":"Sleep Med"},{"issue":"4","key":"806_CR31","doi-asserted-by":"publisher","first-page":"e91","DOI":"10.1183\/20734735.012116","volume":"12","author":"EA Hill","year":"2016","unstructured":"Hill EA. Obstructive sleep apnoea\/hypopnoea syndrome in adults with Down syndrome. Breathe Sheff Engl. 2016;12(4):e91\u20136.","journal-title":"Breathe Sheff Engl"},{"issue":"6","key":"806_CR32","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1016\/S0022-3476(99)70293-3","volume":"134","author":"A Levanon","year":"1999","unstructured":"Levanon A, Tarasiuk A, Tal A. Sleep characteristics in children with Down syndrome. J Pediatr. 1999;134(6):755\u201360.","journal-title":"J Pediatr"},{"issue":"7","key":"806_CR33","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1001\/archpedi.157.7.655","volume":"157","author":"ME Dyken","year":"2003","unstructured":"Dyken ME, Lin-Dyken DC, Poulton S, Zimmerman MB, Sedars E. Prospective polysomnographic analysis of obstructive sleep apnea in Down syndrome. Arch Pediatr Adolesc Med. 2003;157(7):655\u201360.","journal-title":"Arch Pediatr Adolesc Med"},{"key":"806_CR34","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1016\/j.sleep.2016.10.001","volume":"27\u201328","author":"CM Hill","year":"2016","unstructured":"Hill CM, Evans HJ, Elphick H, et al. Prevalence and predictors of obstructive sleep apnoea in young children with Down syndrome. Sleep Med. 2016;27\u201328:99\u2013106.","journal-title":"Sleep Med"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-018-0806-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13023-018-0806-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-018-0806-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,19]],"date-time":"2019-04-19T19:25:37Z","timestamp":1555701937000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-018-0806-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,20]]},"references-count":34,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["806"],"URL":"https:\/\/doi.org\/10.1186\/s13023-018-0806-6","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,20]]},"assertion":[{"value":"2 October 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 April 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 April 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The database and data collection have been approved by French national data protection authorities (CNIL n\u00b0908,324 and CCTIRS n\u00b008.015bis). Each patient and\/or his or her legal representatives were informed prior to entering their data in the database.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare that they have no competing interests.","order":2,"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":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"60"}}