{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T17:39:37Z","timestamp":1767721177905,"version":"3.48.0"},"reference-count":13,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,12,5]]},"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Fanconi-Bickel syndrome (FBS) is caused by biallelic pathogenic variants in the\n                    <jats:italic>SLC2A2<\/jats:italic>\n                    gene, which encodes the glucose transporter protein 2 (GLUT2), leading to a rare disorder that affects glucose homeostasis. The exact mechanisms by which FBS leads to dysglycaemia are not clearly understood. The clinical manifestations are those related to dysglycaemia, proximal tubulopathy (glycosuria, galactosuria, aminoaciduria, proteinuria, phosphaturia), hepatomegaly, galactose intolerance, rickets and short stature.\n                  <\/jats:p>\n                  <jats:p>\n                    We report a teenage girl with persistent glycosuria and short stature. Laboratory findings revealed glycosuria, proteinuria, aminoaciduria, hypercalciuria and hypouricaemia indicating a proximal tubulopathy. Whole exome sequencing identified two variants, c.218C&gt;G\u2009p.(Ser73*) and c.371+5G&gt;A, likely in trans in the\n                    <jats:italic>SLC2A2<\/jats:italic>\n                    gene, establishing the diagnosis of FBS. She was asymptomatic, and the treatment consisted of vitamin D supplementation and dietary changes.\n                  <\/jats:p>\n                  <jats:p>FBS may have a wide range of clinical manifestations and severity. Abnormal laboratory results indicating glucose metabolism issues are crucial diagnostic clues for mild forms of FBS. Indeed, the diagnosis of mild forms of FBS is challenging due to the lack of specific clinical and analytical features.<\/jats:p>","DOI":"10.1136\/bcr-2025-266997","type":"journal-article","created":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T17:35:15Z","timestamp":1767720915000},"page":"e266997","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of an unusual variant of Fanconi-Bickel syndrome presenting as proximal tubulopathy and short stature"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-9041-4932","authenticated-orcid":false,"given":"Madalena","family":"Roque do Vale Afonso","sequence":"first","affiliation":[{"name":"Pediatria, Hospital de S\u00e3o Francisco Xavier, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Nunes","sequence":"additional","affiliation":[{"name":"Pediatria, Hospital de S\u00e3o Francisco Xavier, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9","family":"M Travessa","sequence":"additional","affiliation":[{"name":"Hospital de Santa Maria, Lisbon, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,1,6]]},"reference":[{"key":"2026010609350487000_19.1.e266997.1","unstructured":"OMIM Entry - # 227810 . FANCONI-BICKEL SYNDROME; FBS. Available: https:\/\/www.omim.org\/entry\/227810"},{"key":"2026010609350487000_19.1.e266997.2","doi-asserted-by":"crossref","first-page":"5467","DOI":"10.12998\/wjcc.v8.i21.5467","article-title":"Fanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature","volume":"8","author":"Xiong","year":"2020","journal-title":"WJCC"},{"key":"2026010609350487000_19.1.e266997.3","doi-asserted-by":"crossref","first-page":"232640981667943","DOI":"10.1177\/2326409816679430","article-title":"Late Diagnosis of Fanconi-Bickel Syndrome","volume":"4","author":"Gupta","year":"2016","journal-title":"J Inborn Errors Metab Screen"},{"key":"2026010609350487000_19.1.e266997.4","doi-asserted-by":"crossref","DOI":"10.3390\/ijms21176286","article-title":"Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia","volume":"21","author":"Sharari","year":"2020","journal-title":"Int J Mol Sci"},{"key":"2026010609350487000_19.1.e266997.5","doi-asserted-by":"crossref","unstructured":"Chen H , Lyu J , Huang Z , et al . Case Report: Fanconi-Bickel Syndrome in a Chinese Girl With Diabetes and Severe Hypokalemia. Front Pediatr 2022;10. doi:10.3389\/fped.2022.897636","DOI":"10.3389\/fped.2022.897636"},{"key":"2026010609350487000_19.1.e266997.6","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-024-03070-8","article-title":"Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome","volume":"19","author":"Du","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"2026010609350487000_19.1.e266997.7","doi-asserted-by":"crossref","DOI":"10.1186\/s13104-016-2184-2","article-title":"Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation","volume":"9","author":"Dweikat","year":"2016","journal-title":"BMC Res Notes"},{"key":"2026010609350487000_19.1.e266997.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-018-4656-5"},{"key":"2026010609350487000_19.1.e266997.9","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-014-3451-1"},{"key":"2026010609350487000_19.1.e266997.10","doi-asserted-by":"crossref","first-page":"1785","DOI":"10.3390\/genes12111785","article-title":"Evidence for a Genotype\u2013Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants","volume":"12","author":"Gr\u00fcnert","year":"2021","journal-title":"Genes (Basel)"},{"key":"2026010609350487000_19.1.e266997.11","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1007\/s12098-014-1487-3","article-title":"Fanconi-Bickel syndrome - mutation in SLC2A2 gene","volume":"81","author":"Kehar","year":"2014","journal-title":"Indian J Pediatr"},{"key":"2026010609350487000_19.1.e266997.12","doi-asserted-by":"crossref","DOI":"10.1186\/s13256-020-02488-5","article-title":"Fanconi-Bickel syndrome in a Ugandan child - diagnostic challenges in resource-limited settings: a case report","volume":"14","author":"Piloya","year":"2020","journal-title":"J Med Case Rep"},{"key":"2026010609350487000_19.1.e266997.13","first-page":"983","article-title":"Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits","volume":"40","author":"Enogieru","year":"2019","journal-title":"Hum Mutat"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-266997","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T17:35:17Z","timestamp":1767720917000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-266997"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,6]]},"published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1136\/bcr-2025-266997"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-266997","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]}}}