{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T08:39:13Z","timestamp":1766479153929,"version":"3.48.0"},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T00:00:00Z","timestamp":1759881600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T00:00:00Z","timestamp":1759881600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100007102","name":"Zagazig University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100007102","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Gaucher disease (GD), the most common lysosomal storage disorder worldwide, should be considered in children presenting with unexplained hepatosplenomegaly and cytopenia. Kidney involvement is rare, and nephrotic syndrome constitutes an uncommon complication. We describe a 15-month-old female, the first child of consanguineous parents, who initially presented with infantile nephrotic syndrome. Kidney biopsy revealed focal segmental glomerulosclerosis (FSGS). The patient had the first corticosteroid treatment without any improvement. Mycophenolate mofetil was then added, resulting in partial remission. The patient subsequently developed pancytopenia, progressive stridor, hepatosplenomegaly, and recurrent seizures. Molecular genetic testing confirmed GD. Enzyme replacement therapy (ERT) improved cytopenia, seizure control, and organomegaly, as well as uremic manifestations; however, progression to kidney failure was not reversed.<\/jats:p>","DOI":"10.1007\/s00467-025-06991-z","type":"journal-article","created":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T08:36:00Z","timestamp":1759912560000},"page":"353-355","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Unexpected Gaucher disease in a case of steroid-resistant nephrotic syndrome"],"prefix":"10.1007","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1005-6046","authenticated-orcid":false,"given":"Mona Hamed","family":"Gehad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Doaa Mohammed","family":"Youssef","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wesam A.","family":"Mokhtar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manar M.","family":"Fathy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amal","family":"Gohary","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,10,8]]},"reference":[{"key":"6991_CR1","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/j.jceh.2014.02.005","volume":"4","author":"A Nagral","year":"2014","unstructured":"Nagral A (2014) Gaucher disease. J Clin Exp Hepatol 4:37\u201350","journal-title":"J Clin Exp Hepatol"},{"key":"6991_CR2","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.braindev.2005.04.005","volume":"28","author":"C Mignot","year":"2006","unstructured":"Mignot C, Doummar D, Maire I, De Villemeur TB, French Type 2 Gaucher Disease Study Group (2006) Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev 28:39\u201348","journal-title":"Brain Dev"},{"key":"6991_CR3","doi-asserted-by":"publisher","first-page":"1287","DOI":"10.4103\/1319-2442.194696","volume":"27","author":"J Al-Bderat","year":"2016","unstructured":"Al-Bderat J, Abbadi N, Shammari A, Al-Bderat A (2016) Gaucher disease in a patient with focal segmental glomerulosclerosis. Saudi J Kidney Dis Transpl 27:1287\u20131289","journal-title":"Saudi J Kidney Dis Transpl"},{"key":"6991_CR4","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1186\/s12882-023-03163-9","volume":"24","author":"M Liang","year":"2023","unstructured":"Liang M, Zhu S, Liu S, Chen J, Li D, Luo C, Wang X, Jiang Z (2023) Gaucher disease in a patient with membranoproliferative glomerulonephritis: case report. BMC Nephrol 24:287","journal-title":"BMC Nephrol"},{"key":"6991_CR5","doi-asserted-by":"publisher","first-page":"6","DOI":"10.21608\/mjvh.2022.234477","volume":"6","author":"F Hassanin","year":"2022","unstructured":"Hassanin F, Abbas AH, Schalaan M, Rabea M (2022) Gaucher disease: recent advances in the diagnosis and management. Med J Viral Hep 6:6\u201310","journal-title":"Med J Viral Hep"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-025-06991-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-025-06991-z","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-025-06991-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T08:34:50Z","timestamp":1766478890000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-025-06991-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,8]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["6991"],"URL":"https:\/\/doi.org\/10.1007\/s00467-025-06991-z","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"type":"print","value":"0931-041X"},{"type":"electronic","value":"1432-198X"}],"subject":[],"published":{"date-parts":[[2025,10,8]]},"assertion":[{"value":"13 August 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 September 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 October 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests relevant to this manuscript.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}