{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:10:07Z","timestamp":1756311007654,"version":"3.44.0"},"reference-count":13,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,8,10]]},"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:p>Glycosuria can be isolated or it can be associated with other tubulopathies like proximal renal tubular acidosis, Fanconi syndrome and endocrine conditions like diabetes mellitus. <jats:italic>The SLC5A2<\/jats:italic> gene codes for the SGLT2 transporter, which is responsible for glucose reabsorption in the proximal tubule. Previously reported cases show that mutation in this gene is associated with intellectual disability, seizure disorder and renin and angiotensin system dysfunction. In his early childhood, a male child displayed persistently high urine glucose levels. We ruled out diabetes mellitus and other tubulopathies before diagnosing the child with familial renal glycosuria, with a novel mutation in the <jats:italic>SLC5A2<\/jats:italic> gene, and screened family members for the same condition. Child\u2019s father was found to have isolated renal glycosuria and tested positive for mutation in the <jats:italic>SLC5A2<\/jats:italic> gene.<\/jats:p>","DOI":"10.1136\/bcr-2023-258408","type":"journal-article","created":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T23:00:13Z","timestamp":1726009213000},"page":"e258408","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Familial renal glycosuria identified in an Indian family"],"prefix":"10.1136","volume":"17","author":[{"given":"Vaishnavi","family":"Sivaji","sequence":"first","affiliation":[{"name":"Paediatrics, SRM Medical College Hospital and Research Centre, Kancheepuram, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prasanna","family":"Raju","sequence":"additional","affiliation":[{"name":"Paediatrics, SRM Medical College Hospital and Research Centre, Kancheepuram, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soundarrajan","family":"Marimuthu","sequence":"additional","affiliation":[{"name":"Paediatrics, SRM Medical College Hospital and Research Centre, Kancheepuram, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Subash","family":"Sundar","sequence":"additional","affiliation":[{"name":"Paediatrics, SRM Medical College Hospital and Research Centre, Kancheepuram, Tamil Nadu, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,9,10]]},"reference":[{"key":"2025082708524391000_17.9.e258408.1","unstructured":"Manoj S , Sharma V , Nath S . 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