{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T18:28:08Z","timestamp":1790447288180,"version":"4.1.0"},"reference-count":15,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,9,1]]},"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>We present a case of a well-thriving infant, who was evaluated for recurrent fever over the past 4\u2009months. History and prior investigations revealed recurrent urinary tract infections (UTIs). A comprehensive workup for recurrent UTIs showed no structural abnormalities of the kidneys or urinary tract. Even after resolved UTIs, the child had persistent glucosuria despite normal blood glucose levels, suggesting a possible tubular disorder. Further evaluation was negative for generalised tubular dysfunction. Whole-exome sequencing (WES) identified novel compound heterozygous variants in the <jats:italic>SLC5A2 gene<\/jats:italic>, which encodes the sodium\u2013glucose cotransporter 2, confirming a diagnosis of familial renal glucosuria (FRG). FRG is a rare, benign tubular disorder with no specific treatment; management primarily focuses on preventing and treating associated UTIs. Comprehensive genetic counselling is essential. This case underscores the importance of recognising isolated glucosuria as a potential indicator of an underlying genetic tubular disorder.<\/jats:p>","DOI":"10.1136\/bcr-2025-267334","type":"journal-article","created":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T04:45:21Z","timestamp":1757911521000},"page":"e267334","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Sweet clues in the urine: novel compound heterozygous <i>SLC5A2 variants<\/i> causing familial renal glucosuria presenting as recurrent urinary tract infections in an infant"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6036-3247","authenticated-orcid":false,"given":"Swarnim","family":"Swarnim","sequence":"first","affiliation":[{"name":"Paediatrics, All India Institute of Medical Sciences - Patna, Patna, Bihar, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6470-8276","authenticated-orcid":false,"given":"Arnab","family":"Ghorui","sequence":"additional","affiliation":[{"name":"Paediatrics, All India Institute of Medical Sciences - Patna, Patna, Bihar, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8605-7336","authenticated-orcid":false,"given":"Yagavan","family":"P","sequence":"additional","affiliation":[{"name":"Paediatrics, All India Institute of Medical Sciences - Patna, Patna, Bihar, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7842-3415","authenticated-orcid":false,"given":"Sneh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Paediatrics, All India Institute of Medical Sciences - Patna, Patna, Bihar, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-0399-2701","authenticated-orcid":false,"given":"Utkarsh","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Paediatrics, All India Institute of Medical Sciences - Patna, Patna, Bihar, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Senthilkumar","family":"Thasarathan","sequence":"additional","affiliation":[{"name":"Division of Scientific affairs, MedGenome Labs Private Limited, Bengaluru, KA, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,9,14]]},"reference":[{"key":"2025091421451127000_18.9.e267334.1","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1007\/s00424-020-02361-w","article-title":"Glucose transporters in the kidney in health and disease","volume":"472","author":"Vallon","year":"2020","journal-title":"Pflugers Arch - Eur J Physiol"},{"key":"2025091421451127000_18.9.e267334.2","unstructured":"National Center for Biotechnology Information . SLC5A2 solute carrier family 5 member 2 [Homo sapiens] (Gene ID: 6524). Bethesda (MD):NCBI Gene; 2025. Available: https:\/\/www.ncbi.nlm.nih.gov\/gene\/6524"},{"key":"2025091421451127000_18.9.e267334.3","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000092790.89332.D2"},{"key":"2025091421451127000_18.9.e267334.4","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025091421451127000_18.9.e267334.5","doi-asserted-by":"crossref","DOI":"10.1093\/ckj\/sfad265","article-title":"Genetic and clinical characterization of familial renal glucosuria","volume":"17","author":"Xu","year":"2024","journal-title":"Clin Kidney J"},{"key":"2025091421451127000_18.9.e267334.6","doi-asserted-by":"crossref","DOI":"10.1186\/s12882-020-01725-9","article-title":"SLC5A2 mutations, including two novel mutations, responsible for renal glucosuria in Chinese families","volume":"21","author":"Yu","year":"2020","journal-title":"BMC Nephrol"},{"key":"2025091421451127000_18.9.e267334.7","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0820-5"},{"key":"2025091421451127000_18.9.e267334.8","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ki.5000194"},{"key":"2025091421451127000_18.9.e267334.9","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0146114","article-title":"Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time","volume":"11","author":"Ottosson-Laakso","year":"2016","journal-title":"PLoS One"},{"key":"2025091421451127000_18.9.e267334.10","doi-asserted-by":"crossref","first-page":"33920","DOI":"10.1038\/srep33920","article-title":"A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria","volume":"6","author":"Zhao","year":"2016","journal-title":"Sci Rep"},{"key":"2025091421451127000_18.9.e267334.11","article-title":"A novel mutation in the SLC5A2 gene causing benign renal glucosuria","volume":"11","author":"Vasconcelos","year":"2022","journal-title":"JPNIM"},{"key":"2025091421451127000_18.9.e267334.12","doi-asserted-by":"crossref","DOI":"10.5409\/wjcp.v14.i1.91622","article-title":"Renal glucosuria in children","volume":"14","author":"Torun Bayram","year":"2025","journal-title":"World J Clin Pediatr"},{"key":"2025091421451127000_18.9.e267334.13","unstructured":"Genetic and Rare Diseases Information Center . Familial renal glucosuria. Bethesda (MD): U.S. Department of Health & Human Services, National Institutes of Health; 2025. Available: https:\/\/rarediseases.info.nih.gov\/diseases\/7548\/familial-renal-glucosuria"},{"key":"2025091421451127000_18.9.e267334.14","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1111\/1753-0407.13410","article-title":"A young-onset type 2 diabetic Chinese girl with familial renal glycosuria caused by a novel mutation in SLC5A2: A case report","volume":"15","author":"Qu","year":"2023","journal-title":"J Diabetes"},{"key":"2025091421451127000_18.9.e267334.15","doi-asserted-by":"crossref","first-page":"S351","DOI":"10.1016\/j.ekir.2024.11.653","article-title":"WCN25-1066 RENAL GLYCOSURIA DUE TO SLC5A2 MUTATION IN A CHILD PRESENTING WITH RECURRENT URINARY TRACT INFECTIONS AND FAILURE TO THRIVE","volume":"10","author":"Ranawaka","year":"2025","journal-title":"Kidney Int Rep"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-267334","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T04:45:23Z","timestamp":1757911523000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-267334"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":15,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2025,9,14]]},"published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1136\/bcr-2025-267334"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-267334","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9]]}}}