{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T01:16:00Z","timestamp":1775265360162,"version":"3.50.1"},"reference-count":6,"publisher":"SMC Media","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Type 1 Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucocerebrosidase, leading to accumulation of its substrate (glucosylceramide) in macrophages of the reticuloendothelial system, which are then referred to as Gaucher cells. The most frequent symptoms are asthenia, spleen and liver enlargement, bone abnormalities and cytopenia due to bone marrow infiltration. Lung involvement in GD is a rare finding, and it is unclear whether it may regress under enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). Here we report a case of type 1 GD recently diagnosed in an elderly patient complicated by infiltrative lung disease, which responded to ERT.<\/jats:p>","DOI":"10.12890\/2021_002802","type":"journal-article","created":{"date-parts":[[2021,9,8]],"date-time":"2021-09-08T03:40:58Z","timestamp":1631072458000},"source":"Crossref","is-referenced-by-count":3,"title":["Pulmonary Involvement Responsive to Enzyme Replacement Therapy in an Elderly Patient with Gaucher Disease"],"prefix":"10.12890","volume":"8","author":[{"given":"Dylan","family":"Vellas","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University Hospital, Saint-Etienne, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2678-0028","authenticated-orcid":false,"given":"Baptiste","family":"Gramont","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University Hospital, Saint-Etienne, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R\u00e9mi","family":"Grange","sequence":"additional","affiliation":[{"name":"Department of Radiology, University Hospital, Saint-Etienne, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7570-3366","authenticated-orcid":false,"given":"Pascal","family":"Cath\u00e9bras","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University Hospital, Saint-Etienne, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10397","published-online":{"date-parts":[[2021,10,8]]},"reference":[{"key":"10.12890\/2021_002802_ref1","doi-asserted-by":"crossref","unstructured":"<li>Stirnemann J, Vigan M, Hamroun D, Heraoui D, Rossi-Semerano L, Berger MG, et al. The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients. <em>Orphanet J Rare Dis<\/em> 2012;<strong>7<\/strong>:7.<\/li>","DOI":"10.1186\/1750-1172-7-77"},{"key":"10.12890\/2021_002802_ref2","doi-asserted-by":"crossref","unstructured":"<li>Nguyen Y, Stirnemann J, Belmatoug N. Gaucher disease: a review. <em>Rev Med Interne<\/em> 2019;<strong>40<\/strong>:313\u2013322.<\/li>","DOI":"10.1016\/j.revmed.2018.11.012"},{"key":"10.12890\/2021_002802_ref3","doi-asserted-by":"crossref","unstructured":"<li>Faverio P, Stainer A, De Giacomi F, Gasperini S, Motta S, Canonico F, et al. Molecular pathways and respiratory involvement in lysosomal storage diseases. <em>Int J Mol Sci<\/em> 2019;<strong>20<\/strong>:327.<\/li>","DOI":"10.3390\/ijms20020327"},{"key":"10.12890\/2021_002802_ref4","doi-asserted-by":"crossref","unstructured":"<li>Goitein O, Elstein D, Abrahamov A, Hadas-Halpern I, Melzer E, Kerem E, et al. Lung involvement and enzyme replacement therapy in Gaucher's disease. <em>QJM<\/em> 2001;<strong>94<\/strong>:407\u2013415.<\/li>","DOI":"10.1093\/qjmed\/94.8.407"},{"key":"10.12890\/2021_002802_ref5","doi-asserted-by":"crossref","unstructured":"<li>Miller A, Brown LK, Pastores GM, Desnick RJ. Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease.<em>Clin Gen<\/em> 2003;<strong>63<\/strong>:368\u2013376.<\/li>","DOI":"10.1034\/j.1399-0004.2003.00060.x"},{"key":"10.12890\/2021_002802_ref6","doi-asserted-by":"crossref","unstructured":"<li>Yassa NA, Wilcox AG. High resolution CT pulmonary findings in adults with Gaucher\u2019s disease. <em>Clin Imaging<\/em> 1998;<strong>22<\/strong>:339\u2013342.<\/li>","DOI":"10.1016\/S0899-7071(98)00028-X"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/2802\/2827","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/2802\/2828","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/2802\/2828","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T13:27:05Z","timestamp":1756128425000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/2802"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,8]]},"references-count":6,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.12890\/2021_002802","relation":{"has-manifestation":[{"id-type":"other","id":"1-77-2802-g2827","asserted-by":"subject"},{"id-type":"other","id":"1-77-2802-g2828","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-77","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"value":"2284-2594","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,8]]},"article-number":"10"}}